Chondrodysplasia Punctata, Rhizomelic
"Chondrodysplasia Punctata, Rhizomelic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
C05.116.099.708.195.200
C16.320.565.663.265
Chondrodysplasia Punctatas, Rhizomelic
Punctata, Rhizomelic Chondrodysplasia
Punctatas, Rhizomelic Chondrodysplasia
Rhizomelic Chondrodysplasia Punctatas
Chondrodysplasia Punctata, Rhizomelic Form
Rhizomelic Chondrodysplasia Punctata
Below are MeSH descriptors whose meaning is more general than "Chondrodysplasia Punctata, Rhizomelic".
Musculoskeletal Diseases [C05]
Bone Diseases [C05.116]
Bone Diseases, Developmental [C05.116.099]
Osteochondrodysplasias [C05.116.099.708]
Chondrodysplasia Punctata [C05.116.099.708.195]
Chondrodysplasia Punctata, Rhizomelic [C05.116.099.708.195.200]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Peroxisomal Disorders [C16.320.565.663]
Chondrodysplasia Punctata, Rhizomelic [C16.320.565.663.265]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Below are MeSH descriptors whose meaning is related to "Chondrodysplasia Punctata, Rhizomelic".
Chondrodysplasia Punctata
Peroxisomal Disorders
Acatalasia
Mevalonate Kinase Deficiency
Refsum Disease
Refsum Disease, Infantile
Zellweger Syndrome
Below are MeSH descriptors whose meaning is more specific than "Chondrodysplasia Punctata, Rhizomelic".
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