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In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We report a G - - > A transition at nucleotide 431 of the proteolipid protein gene ( PLP ) results in a nonsense codon in a family with an unusual form of Pelizaeus - Merzbacher disease ( PMD ) .
### Output Text: | We report a G - - > A transition at nucleotide 431 of the proteolipid protein gene ( PLP ) results in a nonsense codon in a family with an unusual form of <span class="disease">Pelizaeus - Merzbacher disease</span> ( <span class="disease">PMD</span> ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The mutation , which creates a second AluI restriction site , results in a nonsense mutation in PLP .
### Output Text: | The mutation , which creates a second AluI restriction site , results in a nonsense mutation in PLP . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The clinical picture resembles somewhat that of X - linked spastic paraplegia ( SPG ) .
### Output Text: | The clinical picture resembles somewhat that of <span class="disease">X - linked spastic paraplegia</span> ( <span class="disease">SPG</span> ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: It differs from this and both the classical and connatal forms of PMD in that it is relatively mild in form , onset is delayed beyond age 2 years , nystagmus is absent , tremors are prominent , mental retardation is not severe , some patients show dementia or personality disorders , the disease is progressive rather than static in some , and several females show signs of disease .
### Output Text: | It differs from this and both the classical and connatal forms of <span class="disease">PMD</span> in that it is relatively mild in form , onset is delayed beyond age 2 years , <span class="disease">nystagmus</span> is absent , <span class="disease">tremors</span> are prominent , <span class="disease">mental retardation</span> is not severe , some patients show <span class="disease">dementia</span> or <span class="disease">personality disorders</span> , the disease is progressive rather than static in some , and several females show signs of disease . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The nonsense mutation , which is in exon 3B , should block the synthesis of normal PLP but spare DM20 , the isoform whose persistence has been associated with mild forms of PLP - associated disease in both humans and mice . .
### Output Text: | The nonsense mutation , which is in exon 3B , should block the synthesis of normal PLP but spare DM20 , the isoform whose persistence has been associated with mild forms of <span class="disease">PLP - associated disease</span> in both humans and mice . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population .
### Output Text: | Common BRCA1 variants and susceptibility to <span class="disease">breast and ovarian cancer</span> in the general population . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Most multiple case families of young onset breast cancer and ovarian cancer are thought to be due to highly penetrant mutations in the predisposing genes BRCA1 and BRCA2 .
### Output Text: | Most multiple case families of young onset <span class="disease">breast cancer</span> and <span class="disease">ovarian cancer</span> are thought to be due to highly penetrant mutations in the predisposing genes BRCA1 and BRCA2 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: However , these mutations are uncommon in the population and they probably account for only a few percent of all breast cancer incidence .
### Output Text: | However , these mutations are uncommon in the population and they probably account for only a few percent of all <span class="disease">breast cancer</span> incidence . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: A much larger fraction of breast cancer might , in principle , be due to common variants which confer more modest individual risks .
### Output Text: | A much larger fraction of <span class="disease">breast cancer</span> might , in principle , be due to common variants which confer more modest individual risks . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: There are several common polymorphisms in the BRCA1 gene which generate amino acid substitutions .
### Output Text: | There are several common polymorphisms in the BRCA1 gene which generate amino acid substitutions . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We have examined the frequency of four of these polymorphisms Gln356Arg , Pro871Leu , Glu1038Gly and Ser1613Gly in large series of breast and ovarian cancer cases and matched controls .
### Output Text: | We have examined the frequency of four of these polymorphisms Gln356Arg , Pro871Leu , Glu1038Gly and Ser1613Gly in large series of <span class="disease">breast and ovarian cancer</span> cases and matched controls . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Due to strong linkage disequilibrium , these four sites generate only three haplotypes with a frequency > 1 .
### Output Text: | Due to strong linkage disequilibrium , these four sites generate only three haplotypes with a frequency > 1 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: 3 % .
### Output Text: | 3 % . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The most common haplotypes , defined by the alleles Gln356Pro871Glu1038Ser1613 and Gln356Leu871Gly1038Gly1613 , have frequencies of 0 .
### Output Text: | The most common haplotypes , defined by the alleles Gln356Pro871Glu1038Ser1613 and Gln356Leu871Gly1038Gly1613 , have frequencies of 0 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: 57 and 0 .
### Output Text: | 57 and 0 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: 32 respectively , and these frequencies do not differ significantly between patient and control groups .
### Output Text: | 32 respectively , and these frequencies do not differ significantly between patient and control groups . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Thus the most common polymorphisms of the BRCA1 gene do not make a significant contribution to breast or ovarian cancer risk .
### Output Text: | Thus the most common polymorphisms of the BRCA1 gene do not make a significant contribution to <span class="disease">breast or ovarian cancer</span> risk . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: However , our data suggest that the Arg356 allele may have a different genotype distribution in breast cancer patients from that in controls ( Arg356 homozygotes are more frequent in the control groups , P = 0 . 01 ) , indicating that it may be protective against breast cancer .
### Output Text: | However , our data suggest that the Arg356 allele may have a different genotype distribution in <span class="disease">breast cancer</span> patients from that in controls ( Arg356 homozygotes are more frequent in the control groups , P = 0 . 01 ) , indicating that it may be protective against <span class="disease">breast cancer</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: If this finding can be confirmed , it may provide an insight into the structural features of the BRCA1 protein that are important for its function .
### Output Text: | If this finding can be confirmed , it may provide an insight into the structural features of the BRCA1 protein that are important for its function . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Kniest dysplasia : Dr . W .
### Output Text: | <span class="disease">Kniest dysplasia</span> : Dr . W . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Kniest , his patient , the molecular defect .
### Output Text: | Kniest , his patient , the molecular defect . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Kniest dysplasia is a severe chondrodysplasia caused by the defective formation of type II collagen .
### Output Text: | <span class="disease">Kniest dysplasia</span> is a severe <span class="disease">chondrodysplasia</span> caused by the <span class="disease">defective formation of type II collagen</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: We report about Dr . Kniest , who first described the condition in 1952 , and his patient , who , at the age of 50 years is severely handicapped with short stature , restricted joint mobility , and blindness but is mentally alert and leads an active life .
### Output Text: | We report about Dr . Kniest , who first described the condition in 1952 , and his patient , who , at the age of 50 years is <span class="disease">severely handicapped</span> with <span class="disease">short stature</span> , <span class="disease">restricted joint mobility</span> , and <span class="disease">blindness</span> but is mentally alert and leads an active life . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Molecular analysis of the patients DNA showed a single base ( G ) deletion involving the GT dinucleotide at the start of intron 18 destroying a splice site of the COL2A1 gene .
### Output Text: | Molecular analysis of the patients DNA showed a single base ( G ) deletion involving the GT dinucleotide at the start of intron 18 destroying a splice site of the COL2A1 gene . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: This is in accordance with molecular findings in other patients with Kniest dysplasia and confirms , in the original patient , that the disorder is caused by small inframe deletions often due to exon skipping as a result of COL2A1 splice site mutations . .
### Output Text: | This is in accordance with molecular findings in other patients with <span class="disease">Kniest dysplasia</span> and confirms , in the original patient , that the disorder is caused by small inframe deletions often due to exon skipping as a result of COL2A1 splice site mutations . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Cloning of the homogentisate 1 , 2 - dioxygenase gene , the key enzyme of alkaptonuria in mouse .
### Output Text: | Cloning of the homogentisate 1 , 2 - dioxygenase gene , the key enzyme of <span class="disease">alkaptonuria</span> in mouse . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We determined 48 amino acid residues from five peptides from the homogeneous monomer of homogentisate 1 , 2 - dioxygenase ( HGO ; E . C . 1 . 13 . 11 . 15 ) of mouse liver .
### Output Text: | We determined 48 amino acid residues from five peptides from the homogeneous monomer of homogentisate 1 , 2 - dioxygenase ( HGO ; E . C . 1 . 13 . 11 . 15 ) of mouse liver . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: After digestion with trypsin , peptides were separated by reversed phase chromatography and amino acid sequenced .
### Output Text: | After digestion with trypsin , peptides were separated by reversed phase chromatography and amino acid sequenced . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: The deduced codon sequence of three peptides was used to derive degenerated oligomeres .
### Output Text: | The deduced codon sequence of three peptides was used to derive degenerated oligomeres . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: By combining these oligos , we were able to amplify fragments from 100 to 300 bases ( b ) from mouse liver cDNA by polymerase chain reaction after reverse transcription ( RT - PCR ) .
### Output Text: | By combining these oligos , we were able to amplify fragments from 100 to 300 bases ( b ) from mouse liver cDNA by polymerase chain reaction after reverse transcription ( RT - PCR ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: A fragment of 200 b was cloned and used as a probe to screen a mouse liver cDNA library .
### Output Text: | A fragment of 200 b was cloned and used as a probe to screen a mouse liver cDNA library . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: One clone from this library contained the complete cDNA - insert for HGO as determined by sequencing .
### Output Text: | One clone from this library contained the complete cDNA - insert for HGO as determined by sequencing . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: The cDNA encodes for a protein of 50 kDa , as predicted .
### Output Text: | The cDNA encodes for a protein of 50 kDa , as predicted . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The cDNA of mouse HGO has an overall identity of 41 % to the corresponding gene hmgA from Aspergillus .
### Output Text: | The cDNA of mouse HGO has an overall identity of 41 % to the corresponding gene hmgA from Aspergillus . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Sequence similarities to human expressed sequence tags ( EST ) clones ranged from 70 % to 20 % .
### Output Text: | Sequence similarities to human expressed sequence tags ( EST ) clones ranged from 70 % to 20 % . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The positions of 122 conserved amino acids could be determined by multiple sequence alignment .
### Output Text: | The positions of 122 conserved amino acids could be determined by multiple sequence alignment . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: We identified one first intron of 928 b in the mouse gene .
### Output Text: | We identified one first intron of 928 b in the mouse gene . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: The gene for HGO seems to be expressed in various tissues , as shown by RT - PCR on different cDNAs .
### Output Text: | The gene for HGO seems to be expressed in various tissues , as shown by RT - PCR on different cDNAs . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: FISH experiments with the whole murine cDNA as probe clearly revealed signals at the human chromosomal band 3q13 .
### Output Text: | FISH experiments with the whole murine cDNA as probe clearly revealed signals at the human chromosomal band 3q13 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: 3 - q21 .
### Output Text: | 3 - q21 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: This corresponds well to the previous assignment of the locus for the human alkaptonuria gene ( AKU ) to the same chromosomal region by multipoint linkage analysis .
### Output Text: | This corresponds well to the previous assignment of the locus for the human <span class="disease">alkaptonuria</span> gene ( AKU ) to the same chromosomal region by multipoint linkage analysis . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We therefore conclude that the HGO cDNA encodes the gene responsible for alkaptonuria .
### Output Text: | We therefore conclude that the HGO cDNA encodes the gene responsible for <span class="disease">alkaptonuria</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: PTEN , a putative protein tyrosine phosphatase gene mutated in human brain , breast , and prostate cancer .
### Output Text: | PTEN , a putative protein tyrosine phosphatase gene mutated in human <span class="disease">brain , breast , and prostate cancer</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Mapping of homozygous deletions on human chromosome 10q23 has led to the isolation of a candidate tumor suppressor gene , PTEN , that appears to be mutated at considerable frequency in human cancers .
### Output Text: | Mapping of homozygous deletions on human chromosome 10q23 has led to the isolation of a candidate <span class="disease">tumor</span> suppressor gene , PTEN , that appears to be mutated at considerable frequency in human <span class="disease">cancers</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: In preliminary screens , mutations of PTEN were detected in 31 % ( 13 / 42 ) of glioblastoma cell lines and xenografts , 100 % ( 4 / 4 ) of prostate cancer cell lines , 6 % ( 4 / 65 ) of breast cancer cell lines and xenografts , and 17 % ( 3 / 18 ) of primary glioblastomas .
### Output Text: | In preliminary screens , mutations of PTEN were detected in 31 % ( 13 / 42 ) of <span class="disease">glioblastoma</span> cell lines and xenografts , 100 % ( 4 / 4 ) of <span class="disease">prostate cancer</span> cell lines , 6 % ( 4 / 65 ) of <span class="disease">breast cancer</span> cell lines and xenografts , and 17 % ( 3 / 18 ) of <span class="disease">primary glioblastomas</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: The predicted PTEN product has a protein tyrosine phosphatase domain and extensive homology to tensin , a protein that interacts with actin filaments at focal adhesions .
### Output Text: | The predicted PTEN product has a protein tyrosine phosphatase domain and extensive homology to tensin , a protein that interacts with actin filaments at focal adhesions . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: These homologies suggest that PTEN may suppress tumor cell growth by antagonizing protein tyrosine kinases and may regulate tumor cell invasion and metastasis through interactions at focal adhesions . .
### Output Text: | These homologies suggest that PTEN may suppress <span class="disease">tumor</span> cell growth by antagonizing protein tyrosine kinases and may regulate <span class="disease">tumor</span> cell invasion and <span class="disease">metastasis</span> through interactions at focal adhesions . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Heterogeneity in Schwartz - Jampel chondrodystrophic myotonia .
### Output Text: | Heterogeneity in <span class="disease">Schwartz - Jampel chondrodystrophic myotonia</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The Schwartz - Jampel syndrome ( SJS ; chondrodystrophic myotonia ; McK 255 , 800 ) is a recessively inherited condition defined by myotonia , short stature , and bone dysplasia .
### Output Text: | The <span class="disease">Schwartz - Jampel syndrome</span> ( <span class="disease">SJS</span> ; <span class="disease">chondrodystrophic myotonia</span> ; McK 255 , 800 ) is a <span class="disease">recessively inherited condition</span> defined by <span class="disease">myotonia</span> , <span class="disease">short stature</span> , and <span class="disease">bone dysplasia</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Genetic linkage between SJS and chromosomal region 1q36 - 34 has been observed in several families , but the gene has not yet been identified .
### Output Text: | Genetic linkage between <span class="disease">SJS</span> and chromosomal region 1q36 - 34 has been observed in several families , but the gene has not yet been identified . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: We studied the clinical and radiological features in 81 patients from the literature and 5 own patients trying to identify distinct subgroups .
### Output Text: | We studied the clinical and radiological features in 81 patients from the literature and 5 own patients trying to identify distinct subgroups . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In addition , we tested genetic linkage to the SJS locus on chromosome 1 in one family with two affected sibs .
### Output Text: | In addition , we tested genetic linkage to the <span class="disease">SJS</span> locus on chromosome 1 in one family with two affected sibs . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: We found that a group of patients have mild skeletal changes which may be secondary consequences of myotonia , while another group of patients appear to have primary bone dysplasia with myotonia .
### Output Text: | We found that a group of patients have mild skeletal changes which may be secondary consequences of <span class="disease">myotonia</span> , while another group of patients appear to have primary <span class="disease">bone dysplasia</span> with <span class="disease">myotonia</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Within this latter group , there are differences in age of manifestation , clinical course and pattern of bone changes .
### Output Text: | Within this latter group , there are differences in age of manifestation , clinical course and pattern of bone changes . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: We tentatively isolate three different types of SJS type 1A , usually recognized in childhood , with moderate bone dysplasia , corresponding to the original descriptions of Schwartz , Jampel and Aberfeld ; type 1B , similar to type 1A but recognizable at birth , with more pronounced bone dysplasia resembling Kniest dysplasia ; and type 2 , manifest at birth , with increased mortality and bone dysplasia resembling Pyle disease .
### Output Text: | We tentatively isolate three different types of <span class="disease">SJS type 1A</span> , usually recognized in childhood , with moderate <span class="disease">bone dysplasia</span> , corresponding to the original descriptions of Schwartz , Jampel and Aberfeld ; type 1B , similar to type 1A but recognizable at birth , with more pronounced <span class="disease">bone dysplasia</span> resembling <span class="disease">Kniest dysplasia</span> ; and type 2 , manifest at birth , with increased mortality and <span class="disease">bone dysplasia</span> resembling <span class="disease">Pyle disease</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Genetic analysis of the family with two sibs affected by SJS type 2 showed evidence against linkage to chromosome 1p36 - 34 .
### Output Text: | Genetic analysis of the family with two sibs affected by <span class="disease">SJS type 2</span> showed evidence against linkage to chromosome 1p36 - 34 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: CONCLUSIONS SJS is clinically and radiologically heterogeneous .
### Output Text: | CONCLUSIONS <span class="disease">SJS</span> is clinically and radiologically heterogeneous . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The causes of heterogeneity are not known yet but are likely to include both different mutations at the SJS locus on chromosome 1 and the presence of a second SJS locus .
### Output Text: | The causes of heterogeneity are not known yet but are likely to include both different mutations at the <span class="disease">SJS</span> locus on chromosome 1 and the presence of a second <span class="disease">SJS</span> locus . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: A tentative clinico - radiological classification can be useful for the characterization of patients and the development of genotype - phenotype correlations . .
### Output Text: | A tentative clinico - radiological classification can be useful for the characterization of patients and the development of genotype - phenotype correlations . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: A clinical overview of WT1 gene mutations .
### Output Text: | A clinical overview of WT1 gene mutations . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Mutations in the WT1 gene were anticipated to explain the genetic basis of the childhood kidney cancer , Wilms tumour ( WT ) .
### Output Text: | Mutations in the WT1 gene were anticipated to explain the genetic basis of the childhood <span class="disease">kidney cancer</span> , <span class="disease">Wilms tumour</span> ( <span class="disease">WT</span> ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Six years on , we review 100 reports of intragenic WT1 mutations and examine the accompanying clinical phenotypes .
### Output Text: | Six years on , we review 100 reports of intragenic WT1 mutations and examine the accompanying clinical phenotypes . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: While only 5 % of sporadic Wilms tumours have intragenic WT1 mutations , > 90 % of patients with the Denys - Drash syndrome ( renal nephropathy , gonadal anomaly , predisposition to WT ) carry constitutional intragenic WT1 mutations .
### Output Text: | While only 5 % of <span class="disease">sporadic Wilms tumours</span> have intragenic WT1 mutations , > 90 % of patients with the <span class="disease">Denys - Drash syndrome</span> ( <span class="disease">renal nephropathy</span> , <span class="disease">gonadal anomaly</span> , <span class="disease">predisposition to WT</span> ) carry constitutional intragenic WT1 mutations . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: WT1 mutations have also been reported in juvenile granulosa cell tumour , non - asbestos related mesothelioma , desmoplastic small round cell tumour and , most recently , acute myeloid leukemia . .
### Output Text: | WT1 mutations have also been reported in <span class="disease">juvenile granulosa cell tumour</span> , <span class="disease">non - asbestos related mesothelioma</span> , <span class="disease">desmoplastic small round cell tumour</span> and , most recently , <span class="disease">acute myeloid leukemia</span> . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel .
### Output Text: | A mutation in <span class="disease">autosomal dominant myotonia congenita</span> affects pore properties of the muscle chloride channel . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle caused by mutations in a voltage - gated Cl - channel gene ( CLCN1 , 7q35 ) .
### Output Text: | <span class="disease">Autosomal dominant myotonia congenita</span> is an <span class="disease">inherited disorder of skeletal muscle</span> caused by mutations in a voltage - gated Cl - channel gene ( CLCN1 , 7q35 ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Here , we report that a mutation predicting the substitution of Gly 230 by glutamic acid ( G230E ) between segments D3 and D4 dramatically alters the pore properties of a recombinant human muscle Cl - channel ( hCIC - 1 ) expressed in a mammalian cell line ( tsA201 ) .
### Output Text: | Here , we report that a mutation predicting the substitution of Gly 230 by glutamic acid ( G230E ) between segments D3 and D4 dramatically alters the pore properties of a recombinant human muscle Cl - channel ( hCIC - 1 ) expressed in a mammalian cell line ( tsA201 ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The G230E mutation causes substantial changes in anion and cation selectivity as well as a fundamental change in rectification of the current - voltage relationship .
### Output Text: | The G230E mutation causes substantial changes in anion and cation selectivity as well as a fundamental change in rectification of the current - voltage relationship . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Whereas wild - type channels are characterized by pronounced inward rectification and a Cl > thiocyanate > Br > NO ( 3 ) > I > CH ( 3 ) SO ( 3 ) selectivity , G230E exhibits outward rectification at positive potentials and a thiocyanate > NO ( 3 ) > I > Br > Cl > CH ( 3 ) SO ( 3 ) selectivity .
### Output Text: | Whereas wild - type channels are characterized by pronounced inward rectification and a Cl > thiocyanate > Br > NO ( 3 ) > I > CH ( 3 ) SO ( 3 ) selectivity , G230E exhibits outward rectification at positive potentials and a thiocyanate > NO ( 3 ) > I > Br > Cl > CH ( 3 ) SO ( 3 ) selectivity . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Furthermore , the cation - to - anion permeability ratio of the mutant is much greater than that of the wild - type channel .
### Output Text: | Furthermore , the cation - to - anion permeability ratio of the mutant is much greater than that of the wild - type channel . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Voltage - dependent blocks by intracellular and extracellular iodide help to distinguish two distinct ion binding sites within the hClC - 1 conduction pathway .
### Output Text: | Voltage - dependent blocks by intracellular and extracellular iodide help to distinguish two distinct ion binding sites within the hClC - 1 conduction pathway . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Both binding sites are preserved in the mutant but have decreased affinities for iodide .
### Output Text: | Both binding sites are preserved in the mutant but have decreased affinities for iodide . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: These findings suggest that Gly 230 is critical for normal ion conductance in hClC - 1 and that this residue resides within the channel pore . .
### Output Text: | These findings suggest that Gly 230 is critical for normal ion conductance in hClC - 1 and that this residue resides within the channel pore . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The incidence of PAX6 mutation in patients with simple aniridia : an evaluation of mutation detection in 12 cases .
### Output Text: | The incidence of PAX6 mutation in patients with simple <span class="disease">aniridia</span> : an evaluation of mutation detection in 12 cases . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Twelve aniridia patients , five with a family history and seven presumed to be sporadic , were exhaustively screened in order to test what proportion of people with aniridia , uncomplicated by associated anomalies , carry mutations in the human PAX6 gene .
### Output Text: | Twelve <span class="disease">aniridia</span> patients , five with a family history and seven presumed to be sporadic , were exhaustively screened in order to test what proportion of people with <span class="disease">aniridia</span> , uncomplicated by associated anomalies , carry mutations in the human PAX6 gene . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Mutations were detected in 90 % of the cases .
### Output Text: | Mutations were detected in 90 % of the cases . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Three mutation detection techniques were used to determine if one method was superior for this gene .
### Output Text: | Three mutation detection techniques were used to determine if one method was superior for this gene . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The protein truncation test ( PTT ) was used on RT - PCR products , SSCP on genomic PCR amplifications , and chemical cleavage of mismatch on both RT - PCR and genomic amplifications .
### Output Text: | The protein truncation test ( PTT ) was used on RT - PCR products , SSCP on genomic PCR amplifications , and chemical cleavage of mismatch on both RT - PCR and genomic amplifications . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: For RT - PCR products , only the translated portion of the gene was screened .
### Output Text: | For RT - PCR products , only the translated portion of the gene was screened . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: On genomic products exons 1 to 13 ( including 740 bp of the 3 untranslated sequence and all intron / exon boundaries ) were screened , as was a neuroretina specific enhancer in intron 4 .
### Output Text: | On genomic products exons 1 to 13 ( including 740 bp of the 3 untranslated sequence and all intron / exon boundaries ) were screened , as was a neuroretina specific enhancer in intron 4 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Ten of the possible 12 mutations in the five familial cases and five of the sporadic patients were found , all of which conformed to a functional outcome of haploinsufficiency .
### Output Text: | Ten of the possible 12 mutations in the five familial cases and five of the sporadic patients were found , all of which conformed to a functional outcome of haploinsufficiency . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Five were splice site mutations ( one in the donor site of intron 4 , two in the donor site of intron 6 , one in each of the acceptor sites of introns 8 and 9 ) and five were nonsense mutations in exons 8 , 9 , 10 , 11 , and 12 .
### Output Text: | Five were splice site mutations ( one in the donor site of intron 4 , two in the donor site of intron 6 , one in each of the acceptor sites of introns 8 and 9 ) and five were nonsense mutations in exons 8 , 9 , 10 , 11 , and 12 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: SSCP analysis of individually amplified exons , with which nine of the 10 mutations were seen , was the most useful detection method for PAX6 . .
### Output Text: | SSCP analysis of individually amplified exons , with which nine of the 10 mutations were seen , was the most useful detection method for PAX6 . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Insulin gene region contributes to genetic susceptibility to , but may not to low incidence of , insulin - dependent diabetes mellitus in Japanese .
### Output Text: | Insulin gene region contributes to genetic susceptibility to , but may not to low incidence of , <span class="disease">insulin - dependent diabetes mellitus</span> in Japanese . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: In the Caucasian population , it has been demonstrated that the insulin gene ( INS ) region contains the insulin - dependent diabetes mellitus locus ( IDDM2 ) .
### Output Text: | In the Caucasian population , it has been demonstrated that the insulin gene ( INS ) region contains the <span class="disease">insulin - dependent diabetes mellitus</span> locus ( IDDM2 ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: In the Japanese population , however , there has been no report demonstrating the contribution of IDDM2 to the pathogenesis of IDDM .
### Output Text: | In the Japanese population , however , there has been no report demonstrating the contribution of IDDM2 to the pathogenesis of <span class="disease">IDDM</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We conducted an association study of IDDM in a large number of Japanese subjects with multiple polymorphisms in INS region .
### Output Text: | We conducted an association study of <span class="disease">IDDM</span> in a large number of Japanese subjects with multiple polymorphisms in INS region . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We found a significant association of the INS region with IDDM .
### Output Text: | We found a significant association of the INS region with <span class="disease">IDDM</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Alleles positively associated with IDDM in INS region were the same as those positively - associated with IDDM in Caucasian population , although positively - associated alleles are very common ( allele frequencies > 0 . 9 ) in the Japanese general population .
### Output Text: | Alleles positively associated with <span class="disease">IDDM</span> in INS region were the same as those positively - associated with <span class="disease">IDDM</span> in Caucasian population , although positively - associated alleles are very common ( allele frequencies > 0 . 9 ) in the Japanese general population . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: These data suggest that IDDM2 is involved in the genetic susceptibility to IDDM in Japanese .
### Output Text: | These data suggest that IDDM2 is involved in the genetic susceptibility to <span class="disease">IDDM</span> in Japanese . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The high frequencies of disease - associated alleles in the general population suggest that IDDM2 locus is not responsible for the low incidence of IDDM in Japanese .
### Output Text: | The high frequencies of disease - associated alleles in the general population suggest that IDDM2 locus is not responsible for the low incidence of <span class="disease">IDDM</span> in Japanese . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The human complement C9 gene : identification of two mutations causing deficiency and revision of the gene structure .
### Output Text: | The human complement C9 gene : identification of two mutations causing deficiency and revision of the gene structure . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The ninth component of human complement ( C9 ) is the last of the terminal complement components creating the membrane attack complex .
### Output Text: | The ninth component of human complement ( C9 ) is the last of the terminal complement components creating the membrane attack complex . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: C9 is a single - chain serum protein that is encoded by a gene located on chromosome 5p .
### Output Text: | C9 is a single - chain serum protein that is encoded by a gene located on chromosome 5p . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Deficiency of terminal complement components is generally associated with recurrent neisseria infections .
### Output Text: | <span class="disease">Deficiency of terminal complement components</span> is generally associated with recurrent <span class="disease">neisseria infections</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We studied a previously described Swiss family with inherited C9 deficiency .
### Output Text: | We studied a previously described Swiss family with <span class="disease">inherited C9 deficiency</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: To identify the genetic basis of C9 deficiency , we developed an approach using exon - specific PCR and direct DNA sequencing .
### Output Text: | To identify the genetic basis of <span class="disease">C9 deficiency</span> , we developed an approach using exon - specific PCR and direct DNA sequencing . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: As a cause of C9 deficiency , we found two different point mutations , both generating TGA stop codons in the coding sequence .
### Output Text: | As a cause of <span class="disease">C9 deficiency</span> , we found two different point mutations , both generating TGA stop codons in the coding sequence . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: One mutation , a C to A exchange , was detected in exon 2 at cDNA position 166 , the other , a C to T exchange , was located in exon 4 ( cDNA position 464 ) .
### Output Text: | One mutation , a C to A exchange , was detected in exon 2 at cDNA position 166 , the other , a C to T exchange , was located in exon 4 ( cDNA position 464 ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: In family studies of three first - degree relatives with heterozygous C9 deficiency , we demonstrated that the two mutations are segregating independently .
### Output Text: | In family studies of three first - degree relatives with heterozygous <span class="disease">C9 deficiency</span> , we demonstrated that the two mutations are segregating independently . |