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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.
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### Input Text: Hereditary hyperparathyroidism - jaw tumor syndrome ( HPT - JT ) is an autosomal dominant disease ( OMIM 145001 ) that has recently been mapped to chromosomal region 1q21 - q32 ( HRPT2 ) .
### Output Text: | <span class="disease">Hereditary hyperparathyroidism - jaw tumor syndrome</span> ( <span class="disease">HPT - JT</span> ) is an <span class="disease">autosomal dominant disease</span> ( OMIM 145001 ) that has recently been mapped to chromosomal region 1q21 - q32 ( HRPT2 ) . |
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 two families with HPT - JT syndrome in which adult renal hamartomas or cystic kidney disease were prominent associated features , possibly representing a new phenotypic variant of the HPT - JT syndrome .
### Output Text: | Here we report two families with <span class="disease">HPT - JT syndrome</span> in which <span class="disease">adult renal hamartomas</span> or <span class="disease">cystic kidney disease</span> were prominent associated features , possibly representing a new phenotypic variant of the <span class="disease">HPT - JT syndrome</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 the first family , renal lesions were present in five out of six affected individuals , whereas HPT and JT were seen in four and two cases , respectively .
### Output Text: | In the first family , <span class="disease">renal lesions</span> were present in five out of six affected individuals , whereas <span class="disease">HPT</span> and <span class="disease">JT</span> were seen in four and two cases , respectively . |
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 second family , JT was found in three of the five affected individuals and two affected members also exhibited polycystic kidney disease .
### Output Text: | In the second family , <span class="disease">JT</span> was found in three of the five affected individuals and two affected members also exhibited <span class="disease">polycystic kidney 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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### Input Text: The possibility of the latter cosegregating as a separate autosomal dominant gene can not be ruled out .
### Output Text: | The possibility of the latter cosegregating as a separate autosomal dominant gene can not be ruled out . |
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 sex - dependent penetrance of primary HPT , resulting in predominantly male - affected cases was evident in the two families .
### Output Text: | A sex - dependent penetrance of <span class="disease">primary HPT</span> , resulting in predominantly male - affected cases was evident in the two families . |
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: Twenty microsatellite markers in the HRPT2 region were typed , in addition to markers in the multiple endocrine neoplasia ( MEN ) types 1 and 2 regions at 11q13 and 10q11 .
### Output Text: | Twenty microsatellite markers in the HRPT2 region were typed , in addition to markers in the <span class="disease">multiple endocrine neoplasia ( MEN ) types 1 and 2</span> regions at 11q13 and 10q11 . |
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 disease in these two kindreds was linked to five markers in the 1q21 - q32 region ( logarithm - of - odds scores 3 . 2 - 4 2 - 4 . 2 ) , whereas linkage to the MEN1 and MEN2 regions was excluded .
### Output Text: | The disease in these two kindreds was linked to five markers in the 1q21 - q32 region ( logarithm - of - odds scores 3 . 2 - 4 2 - 4 . 2 ) , whereas linkage to the <span class="disease">MEN1</span> and <span class="disease">MEN2</span> regions was excluded . |
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: Meiotic recombinations detected in affected individuals placed the locus telomeric of D1S215 , thus narrowing the HRPT2 region from > 60 to approximately 34 centimorgans .
### Output Text: | Meiotic recombinations detected in affected individuals placed the locus telomeric of D1S215 , thus narrowing the HRPT2 region from > 60 to approximately 34 centimorgans . |
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: Loss of heterozygosity was studied in seven renal hamartomas from two affected individuals in the first family , as well as in a jaw tumor and a parathyroid tumor from the second family .
### Output Text: | Loss of heterozygosity was studied in seven <span class="disease">renal hamartomas</span> from two affected individuals in the first family , as well as in a <span class="disease">jaw tumor</span> and a <span class="disease">parathyroid tumor</span> from the second family . |
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: All renal hamartomas showed loss of heterozygosity at the 1q21 - q32 region .
### Output Text: | All <span class="disease">renal hamartomas</span> showed loss of heterozygosity at the 1q21 - q32 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: The losses invariably involved the wild type allele derived from the unaffected parent , suggesting the inactivation of a tumor suppressor gene in this region
### Output Text: | The losses invariably involved the wild type allele derived from the unaffected parent , suggesting the inactivation of a <span class="disease">tumor</span> suppressor gene in this 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: Independent origin of single and double mutations in the human glucose 6 - phosphate dehydrogenase gene .
### Output Text: | Independent origin of single and double mutations in the human glucose 6 - phosphate dehydrogenase 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 vast majority of both polymorphic and sporadic G6PD variants are due to single missense mutations .
### Output Text: | The vast majority of both polymorphic and sporadic G6PD variants are due to single missense 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: In the four polymorphic variants that have two point mutations , one of the mutations is always 376 A - - > G ( 126 Asn - - > Asp ) , which on its own gives rise to the nondeficient polymorphic variant , G6PD A .
### Output Text: | In the four polymorphic variants that have two point mutations , one of the mutations is always 376 A - - > G ( 126 Asn - - > Asp ) , which on its own gives rise to the nondeficient polymorphic variant , G6PD A . |
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 a study of G6PD deficient patients who presented with clinical favism in Spain , we have found a new polymorphic variant that we have called G6PD Malaga , whose only abnormality is a 542 A - - > T ( 181 Asp - - > Val ) mutation .
### Output Text: | In a study of <span class="disease">G6PD deficient</span> patients who presented with clinical <span class="disease">favism</span> in Spain , we have found a new polymorphic variant that we have called G6PD Malaga , whose only abnormality is a 542 A - - > T ( 181 Asp - - > Val ) mutation . |
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: This is the same mutation as previously found in association with the mutation of G6PD A in the double mutant , G6PD Santamaria .
### Output Text: | This is the same mutation as previously found in association with the mutation of G6PD A in the double mutant , G6PD Santamaria . |
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: G6PD Malaga is associated with enzyme deficiency ( class III ) , and the enzymic properties of G6PD Malaga and G6PD Santamaria are quite similar , indicating that in this case the effects of the two mutations are additive rather than synergistic .
### Output Text: | G6PD Malaga is associated with <span class="disease">enzyme deficiency</span> ( class III ) , and the enzymic properties of G6PD Malaga and G6PD Santamaria are quite similar , indicating that in this case the effects of the two mutations are additive rather than synergistic . |
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: G6PD Santamaria might have been produced by recombination between G6PD A and G6PD Malaga ; however haplotype analysis , including the use of a new silent polymorphism , suggests that the same 542 A - - > T mutation has taken place independently in a G6PD B gene to give G6PD Malaga and in a G6PD A gene to give G6PD Santamaria .
### Output Text: | G6PD Santamaria might have been produced by recombination between G6PD A and G6PD Malaga ; however haplotype analysis , including the use of a new silent polymorphism , suggests that the same 542 A - - > T mutation has taken place independently in a G6PD B gene to give G6PD Malaga and in a G6PD A gene to give G6PD Santamaria . |
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 help to outline the relationship and evolution of mutations in the human G6PD locus . .
### Output Text: | These findings help to outline the relationship and evolution of mutations in the human G6PD 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: BRCA1 R841W : a strong candidate for a common mutation with moderate phenotype .
### Output Text: | BRCA1 R841W : a strong candidate for a common mutation with moderate phenotype . |
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: BRCA1 mutations cause increased risk for breast and ovarian cancer , frequently of early onset .
### Output Text: | BRCA1 mutations cause increased risk for <span class="disease">breast and ovarian cancer</span> , frequently of early onset . |
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: Many different mutations occur in BRCA1 , including several examples of recurrent mutations , each of which accounts for a significant number of families with heritable cancer predisposition .
### Output Text: | Many different mutations occur in BRCA1 , including several examples of recurrent mutations , each of which accounts for a significant number of families with heritable <span class="disease">cancer</span> predisposition . |
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 common mutations have an etiological role in many breast and ovarian cancer cases and provide the opportunity to examine genotype - phenotype correlations and genotype - environment interactions in individuals with the identical BRCA1 lesion .
### Output Text: | These common mutations have an etiological role in many <span class="disease">breast and ovarian cancer</span> cases and provide the opportunity to examine genotype - phenotype correlations and genotype - environment interactions in individuals with the identical BRCA1 lesion . |
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 report a novel missense change in BRCA1 , 2640 C - - > T ( R841W ) , found in 3 cases from a subject group of 305 breast and 79 ovarian cancer cases from Orange County , CA .
### Output Text: | We report a novel missense change in BRCA1 , 2640 C - - > T ( R841W ) , found in 3 cases from a subject group of 305 <span class="disease">breast and 79 ovarian cancer</span> cases from Orange County , CA . |
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 are consecutive , population - based cases not selected for age or family history .
### Output Text: | These are consecutive , population - based cases not selected for age or family history . |
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 all three cases , there is a strong family history of breast , ovarian , or other cancers possibly related to a BRCA1 defect and family members showed a high concordance of cancer incidence with the presence of R841W .
### Output Text: | In all three cases , there is a strong family history of <span class="disease">breast , ovarian , or other cancers</span> possibly related to a BRCA1 defect and family members showed a high concordance of <span class="disease">cancer</span> incidence with the presence of R841W . |
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 age of cancer onset was not always distinct from typical sporadic cases .
### Output Text: | The age of <span class="disease">cancer</span> onset was not always distinct from typical sporadic 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: Testing of a sample of 413 unrelated individuals to examine the hypothesis that R841W might be a rare polymorphism detected one additional instance in a woman with breast cancer diagnosed at age 77 years , and cancer in one parent .
### Output Text: | Testing of a sample of 413 unrelated individuals to examine the hypothesis that R841W might be a rare polymorphism detected one additional instance in a woman with <span class="disease">breast cancer</span> diagnosed at age 77 years , and <span class="disease">cancer</span> in one parent . |
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: R841W is likely to be an etiologically significant lesion with involvement in close to 1 % ( 95 % confidence interval of 0 - 1 . 7 % ) of all breast and ovarian cancers in this population .
### Output Text: | R841W is likely to be an etiologically significant lesion with involvement in close to 1 % ( 95 % confidence interval of 0 - 1 . 7 % ) of all <span class="disease">breast and ovarian cancers</span> in this 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: Ataxia - telangiectasia : founder effect among north African Jews .
### Output Text: | <span class="disease">Ataxia - telangiectasia</span> : founder effect among north African Jews . |
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 ATM gene is responsible for the autosomal recessive disorder ataxia - telangiectasia ( A - T ) , characterized by cerebellar degeneration , immunodeficiency and cancer predisposition .
### Output Text: | The ATM gene is responsible for the <span class="disease">autosomal recessive disorder</span> <span class="disease">ataxia - telangiectasia</span> ( <span class="disease">A - T</span> ) , characterized by <span class="disease">cerebellar degeneration</span> , <span class="disease">immunodeficiency</span> and <span class="disease">cancer predisposition</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 - T carriers were reported to be moderately cancer - prone .
### Output Text: | <span class="disease">A - T</span> carriers were reported to be moderately <span class="disease">cancer - prone</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 wide variety of A - T mutations , most of which are unique to single families , were identified in various ethnic groups , precluding carrier screening with mutation - specific assays .
### Output Text: | A wide variety of <span class="disease">A - T</span> mutations , most of which are unique to single families , were identified in various ethnic groups , precluding carrier screening with mutation - specific assays . |
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: However , a single mutation was observed in 32 / 33 defective ATM alleles in Jewish A - T families of North African origin , coming from various regions of Morocco and Tunisia .
### Output Text: | However , a single mutation was observed in 32 / 33 defective ATM alleles in Jewish <span class="disease">A - T</span> families of North African origin , coming from various regions of Morocco and Tunisia . |
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: This mutation , 103C - - > T , results in a stop codon at position 35 of the ATM protein .
### Output Text: | This mutation , 103C - - > T , results in a stop codon at position 35 of the ATM protein . |
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 keeping with the nature of this mutation , various antibodies directed against the ATM protein failed to defect this protein in patient cells .
### Output Text: | In keeping with the nature of this mutation , various antibodies directed against the ATM protein failed to defect this protein in patient cells . |
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 rapid carrier detection assay detected this mutation in three out of 488 ATM alleles of Jewish Moroccan or Tunisian origin .
### Output Text: | A rapid carrier detection assay detected this mutation in three out of 488 ATM alleles of Jewish Moroccan or Tunisian origin . |
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: This founder effect provides a unique opportunity for population - based screening for A - T carriers in a large Jewish community . .
### Output Text: | This founder effect provides a unique opportunity for population - based screening for <span class="disease">A - T</span> carriers in a large Jewish community . . |
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: Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population .
### Output Text: | Mutation analysis of BRCA1 and BRCA2 in a <span class="disease">male breast cancer</span> 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: A population - based series of 54 male breast cancer cases from Southern California were analyzed for germ - line mutations in the inherited breast / ovarian cancer genes , BRCA1 and BRCA2 .
### Output Text: | A population - based series of 54 <span class="disease">male breast cancer</span> cases from Southern California were analyzed for germ - line mutations in the <span class="disease">inherited breast / ovarian cancer</span> 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.
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### Input Text: Nine ( 17 % ) of the patients had a family history of breast and / or ovarian cancer in at least one first - degree relative .
### Output Text: | Nine ( 17 % ) of the patients had a family history of <span class="disease">breast and / or ovarian cancer</span> in at least one first - degree relative . |
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 further seven ( 13 % ) of the patients reported breast / ovarian cancer in at least one second - degree relative and in no first - degree relatives .
### Output Text: | A further seven ( 13 % ) of the patients reported <span class="disease">breast / ovarian cancer</span> in at least one second - degree relative and in no first - degree relatives . |
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: No germ - line BRCA1 mutations were found .
### Output Text: | No germ - line BRCA1 mutations were found . |
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: Two male breast cancer patients ( 4 % of the total ) were found to carry novel truncating mutations in the BRCA2 gene .
### Output Text: | Two <span class="disease">male breast cancer</span> patients ( 4 % of the total ) were found to carry novel truncating mutations in the BRCA2 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: Only one of the two male breast cancer patients carrying a BRCA2 mutation had a family history of cancer , with one case of ovarian cancer in a first - degree relative .
### Output Text: | Only one of the two <span class="disease">male breast cancer</span> patients carrying a BRCA2 mutation had a family history of <span class="disease">cancer</span> , with one case of <span class="disease">ovarian cancer</span> in a first - degree relative . |
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 remaining eight cases ( 89 % ) of male breast cancer with a family history of breast / ovarian cancer in first - degree relatives remain unaccounted for by mutations in either the BRCA1 gene or the BRCA2 gene . .
### Output Text: | The remaining eight cases ( 89 % ) of <span class="disease">male breast cancer</span> with a family history of <span class="disease">breast / ovarian cancer</span> in first - degree relatives remain unaccounted for by mutations in either the BRCA1 gene or the BRCA2 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: Molecular basis for Duarte and Los Angeles variant galactosemia .
### Output Text: | Molecular basis for <span class="disease">Duarte and Los Angeles variant galactosemia</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: Human orythrocytes that are homozygous for the Duarte enzyme variant of galactosemia ( D / D ) have a characteristic isoform on isoelectric focusing and 50 % reduction in galactose - 1 - phosphate uridyltransferase ( GALT ) enzyme activity .
### Output Text: | Human orythrocytes that are homozygous for the <span class="disease">Duarte enzyme variant of galactosemia</span> ( D / D ) have a characteristic isoform on isoelectric focusing and 50 % reduction in galactose - 1 - phosphate uridyltransferase ( GALT ) enzyme activity . |
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 Duarte biochemical phenotype has a molecular genotype of N314D / N314D .
### Output Text: | The Duarte biochemical phenotype has a molecular genotype of N314D / N314D . |
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 characteristic Duarte isoform is also associated with a variant called the " Los Angeles ( LA ) phenotype , " which has increased GALT enzyme activity .
### Output Text: | The characteristic Duarte isoform is also associated with a variant called the " Los Angeles ( LA ) phenotype , " which has increased GALT enzyme activity . |
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 evaluated GALT enzyme activity and screened the GALT genes of 145 patients with one or more N314D - containing alleles .
### Output Text: | We evaluated GALT enzyme activity and screened the GALT genes of 145 patients with one or more N314D - containing alleles . |
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 seven with the LA biochemical phenotype , and all had a 1721C - - > T transition in exon 7 in cis with the N314D missense mutation .
### Output Text: | We found seven with the LA biochemical phenotype , and all had a 1721C - - > T transition in exon 7 in cis with the N314D missense mutation . |
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 1721C - - > T transition is a neutral polymorphism for leucine at amino acid 218 ( L218L ) .
### Output Text: | The 1721C - - > T transition is a neutral polymorphism for leucine at amino acid 218 ( L218L ) . |
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 pedigree analyses , this 1721C - - > T transition segregated with the LA phenotype of increased GALT activity in three different biochemical phenotypes ( LA / N , LA / G , and LA / D ) .
### Output Text: | In pedigree analyses , this 1721C - - > T transition segregated with the LA phenotype of increased GALT activity in three different biochemical phenotypes ( LA / N , LA / G , and LA / D ) . |
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 determine the mechanism for increased activity of the LA variant , we compared GALT mRNA , protein abundance , and enzyme thermal stability in lymphoblast cell lines of D and LA phenotypes with comparable genotypes .
### Output Text: | To determine the mechanism for increased activity of the LA variant , we compared GALT mRNA , protein abundance , and enzyme thermal stability in lymphoblast cell lines of D and LA phenotypes with comparable genotypes . |
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: GALT protein abundance was increased in LA compared to D alleles , but mRNA was similar among all genotypes .
### Output Text: | GALT protein abundance was increased in LA compared to D alleles , but mRNA was similar among all genotypes . |
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: When LA / D and D / D GALT biochemical phenotypes were compared to N / N GALT phenotypes , both had 50 % , as compared to 21 % , reduction in GALT activity in the wild type ( N / N ) after exposure at identical initial enzyme activity to 50 degrees C for 15 min .
### Output Text: | When LA / D and D / D GALT biochemical phenotypes were compared to N / N GALT phenotypes , both had 50 % , as compared to 21 % , reduction in GALT activity in the wild type ( N / N ) after exposure at identical initial enzyme activity to 50 degrees C for 15 min . |
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 conclude that the codon change N314D in cis with the base - pair transition 1721C - - > T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability .
### Output Text: | We conclude that the codon change N314D in cis with the base - pair transition 1721C - - > T produces the <span class="disease">LA variant of galactosemia</span> and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability . |
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 favorable codon bias for the mutated codon with consequently increased translation rates is postulated as the mechanism . .
### Output Text: | A favorable codon bias for the mutated codon with consequently increased translation rates is postulated as the mechanism . . |
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 TSG101 tumor susceptibility gene is located in chromosome 11 band p15 and is mutated in human breast cancer .
### Output Text: | The TSG101 <span class="disease">tumor</span> susceptibility gene is located in chromosome 11 band p15 and is mutated in human <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.
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### Input Text: Recent work has identified a mouse gene ( tsg101 ) whose inactivation in fibroblasts results in cellular transformation and the ability to produce metastatic tumors in nude mice .
### Output Text: | Recent work has identified a mouse gene ( tsg101 ) whose inactivation in fibroblasts results in cellular transformation and the ability to produce <span class="disease">metastatic tumors</span> in nude 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.
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### Input Text: Here , we report that the human homolog , TSG101 , which we isolated and mapped to chromosome 11 , bands 15 .
### Output Text: | Here , we report that the human homolog , TSG101 , which we isolated and mapped to chromosome 11 , bands 15 . |
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: 1 - 15 1 - 15 .
### Output Text: | 1 - 15 1 - 15 . |
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: 2 , a region proposed to contain tumor suppressor gene ( s ) , is mutated at high frequency in human breast cancer .
### Output Text: | 2 , a region proposed to contain <span class="disease">tumor</span> suppressor gene ( s ) , is mutated at high frequency in human <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.
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### Input Text: In 7 of 15 uncultured primary human breast carcinomas , intragenic deletions were shown in TSG101 genomic DNA and transcripts by gel and sequence analysis , and mutations affecting two TSG101 alleles were identified in four of these cancers .
### Output Text: | In 7 of 15 uncultured primary human <span class="disease">breast carcinomas</span> , intragenic deletions were shown in TSG101 genomic DNA and transcripts by gel and sequence analysis , and mutations affecting two TSG101 alleles were identified in four of these <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: No TSG101 defects were found in matched normal breast tissue from the breast cancer patients .
### Output Text: | No TSG101 defects were found in matched normal breast tissue from the <span class="disease">breast cancer</span> patients . |
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 strongly implicate TSG101 mutations in human breast cancer
### Output Text: | These findings strongly implicate TSG101 mutations in human <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.
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### Input Text: Moderate intergenerational and somatic instability of a 55 - CTG repeat in transgenic mice .
### Output Text: | Moderate intergenerational and somatic instability of a 55 - CTG repeat in transgenic 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.
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### Input Text: Myotonic dystrophy ( DM ) is associated with the expansion of a ( CTG ) n trinucleotide repeat in the 3 untranslated region ( UTR ) of the DM protein kinase gene ( DMPK ) .
### Output Text: | <span class="disease">Myotonic dystrophy</span> ( <span class="disease">DM</span> ) is associated with the expansion of a ( CTG ) n trinucleotide repeat in the 3 untranslated region ( UTR ) of the <span class="disease">DM</span> protein kinase gene ( DMPK ) . |
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 ( CTG ) n repeat is polymorphic and varies in size between 5 and 37 repeats in unaffected individuals whereas in affected patients there are between 50 and 4 , 000 CTGs .
### Output Text: | The ( CTG ) n repeat is polymorphic and varies in size between 5 and 37 repeats in unaffected individuals whereas in affected patients there are between 50 and 4 , 000 CTGs . |
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 size of the ( CTG ) n repeat , which increases through generations , generally correlates with clinical severity and age of onset .
### Output Text: | The size of the ( CTG ) n repeat , which increases through generations , generally correlates with clinical severity and age of onset . |
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 instability of the CTG repeat appears to depend on its size as well as on the sex of the transmitting parent .
### Output Text: | The instability of the CTG repeat appears to depend on its size as well as on the sex of the transmitting parent . |
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: Moreover , mitotic instability analysis of different human DM tissues shows length mosaicism between different cell lineages .
### Output Text: | Moreover , mitotic instability analysis of different human <span class="disease">DM</span> tissues shows length mosaicism between different cell lineages . |
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 molecular mechanisms of triplet instability remain elusive .
### Output Text: | The molecular mechanisms of triplet instability remain elusive . |
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 investigate the role of genomic sequences in instability , we produced transgenic mice containing a 45 - kb genomic segment with a 55 - CTG repeat cloned from a mildly affected patient .
### Output Text: | To investigate the role of genomic sequences in instability , we produced transgenic mice containing a 45 - kb genomic segment with a 55 - CTG repeat cloned from a mildly affected patient . |
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 contrast to other mouse models containing CAG repeats within cDNAs , these mice showed both intergenerational and somatic repeat instability . .
### Output Text: | In contrast to other mouse models containing CAG repeats within cDNAs , these mice showed both intergenerational and somatic repeat instability . . |
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: Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome : a molecular and immunological analysis .
### Output Text: | Missense mutations in the Fas gene resulting in <span class="disease">autoimmune lymphoproliferative syndrome</span> : a molecular and immunological 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.
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### Input Text: Programmed cell death ( or apoptosis ) is a physiological process essential to the normal development and homeostatic maintenance of the immune system .
### Output Text: | Programmed cell death ( or apoptosis ) is a physiological process essential to the normal development and homeostatic maintenance of the immune system . |
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 Fas / Apo - 1 receptor plays a crucial role in the regulation of apoptosis , as demonstrated by lymphoproliferation in MRL - lpr / lpr mice and by the recently described autoimmune lymphoproliferative syndrome ( ALPS ) in humans , both of which are due to mutations in the Fas gene .
### Output Text: | The Fas / Apo - 1 receptor plays a crucial role in the regulation of apoptosis , as demonstrated by lymphoproliferation in MRL - lpr / lpr mice and by the recently described <span class="disease">autoimmune lymphoproliferative syndrome</span> ( <span class="disease">ALPS</span> ) in humans , both of which are due to mutations in the Fas 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: We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas - induced apoptosis .
### Output Text: | We describe a novel family with <span class="disease">ALPS</span> in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas - induced apoptosis . |
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 children share common clinical features including splenomegaly and lymphadenopathy , but only one developed severe autoimmune manifestations .
### Output Text: | The children share common clinical features including <span class="disease">splenomegaly</span> and <span class="disease">lymphadenopathy</span> , but only one developed severe <span class="disease">autoimmune manifestations</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 all three siblings , we demonstrated the presence of anergic CD3 + CD4 - CD8 - ( double negative , [ DN ] ) T cells ; moreover , a chronic lymphocyte activation was found , as demonstrated by the presence of high levels of HLA - DR expression on peripheral CD3 + cells and by the presence of high levels of serum activation markers such as soluble interleukin - 2 receptor ( slL - 2R ) and soluble CD30 ( sCD30 ) . .
### Output Text: | In all three siblings , we demonstrated the presence of anergic CD3 + CD4 - CD8 - ( double negative , [ DN ] ) T cells ; moreover , a chronic lymphocyte activation was found , as demonstrated by the presence of high levels of HLA - DR expression on peripheral CD3 + cells and by the presence of high levels of serum activation markers such as soluble interleukin - 2 receptor ( slL - 2R ) and soluble CD30 ( sCD30 ) . . |
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 ataxia - telangiectasia gene product , a constitutively expressed nuclear protein that is not up - regulated following genome damage .
### Output Text: | The <span class="disease">ataxia - telangiectasia</span> gene product , a constitutively expressed nuclear protein that is not up - regulated following genome damage . |
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 product of the ataxia - telangiectasia gene ( ATM ) was identified by using an antiserum developed to a peptide corresponding to the deduced amino acid sequence .
### Output Text: | The product of the <span class="disease">ataxia - telangiectasia</span> gene ( ATM ) was identified by using an antiserum developed to a peptide corresponding to the deduced amino acid 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: The ATM protein is a single , high - molecular weight protein predominantly confined to the nucleus of human fibroblasts , but is present in both nuclear and microsomal fractions from human lymphoblast cells and peripheral blood lymphocytes .
### Output Text: | The ATM protein is a single , high - molecular weight protein predominantly confined to the nucleus of human fibroblasts , but is present in both nuclear and microsomal fractions from human lymphoblast cells and peripheral blood lymphocytes . |
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: ATM protein levels and localization remain constant throughout all stages of the cell cycle .
### Output Text: | ATM protein levels and localization remain constant throughout all stages of the cell cycle . |
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: Truncated ATM protein was not detected in lymphoblasts from ataxia - telangiectasia patients homozygous for mutations leading to premature protein termination .
### Output Text: | Truncated ATM protein was not detected in lymphoblasts from <span class="disease">ataxia - telangiectasia</span> patients homozygous for mutations leading to premature protein termination . |
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: Exposure of normal human cells to gamma - irradiation and the radiomimetic drug neocarzinostatin had no effect on ATM protein levels , in contrast to a noted rise in p53 levels over the same time interval .
### Output Text: | Exposure of normal human cells to gamma - irradiation and the radiomimetic drug neocarzinostatin had no effect on ATM protein levels , in contrast to a noted rise in p53 levels over the same time interval . |
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 are consistent with a role for the ATM protein in ensuring the fidelity of DNA repair and cell cycle regulation following genome damage . .
### Output Text: | These findings are consistent with a role for the ATM protein in ensuring the fidelity of DNA repair and cell cycle regulation following genome damage . . |
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: Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development .
### Output Text: | Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development . |
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: Type III collagen is a fibrillar forming collagen comprising three alpha1 ( III ) chains and is expressed in early embryos and throughout embryogenesis .
### Output Text: | Type III collagen is a fibrillar forming collagen comprising three alpha1 ( III ) chains and is expressed in early embryos and throughout embryogenesis . |
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 adult , type III collagen is a major component of the extracellular matrix in a variety of internal organs and skin .
### Output Text: | In the adult , type III collagen is a major component of the extracellular matrix in a variety of internal organs and skin . |
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 COL3A1 gene have been implicated as a cause of type IV Ehlers - Danlos syndrome , a disease leading to aortic rupture in early adult life .
### Output Text: | Mutations in the COL3A1 gene have been implicated as a cause of <span class="disease">type IV Ehlers - Danlos syndrome</span> , a disease leading to <span class="disease">aortic rupture</span> in early adult 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.
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### Input Text: To directly study the role of Col3a1 in development and disease , we have inactivated the Col3a1 gene in embryonic stem cells by homologous recombination .
### Output Text: | To directly study the role of Col3a1 in development and disease , we have inactivated the Col3a1 gene in embryonic stem cells by homologous recombination . |
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 mutated allele was transmitted through the mouse germ line and homozygous mutant animals were derived from heterozygous intercrosses .
### Output Text: | The mutated allele was transmitted through the mouse germ line and homozygous mutant animals were derived from heterozygous intercrosses . |
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: About 10 % of the homozygous mutant animals survived to adulthood but have a much shorter life span compared with wild - type mice .
### Output Text: | About 10 % of the homozygous mutant animals survived to adulthood but have a much shorter life span compared with wild - type 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.
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### Input Text: The major cause of death of mutant mice was rupture of the major blood vessels , similar to patients with type IV Ehlers - Danlos syndrome .
### Output Text: | The major cause of death of mutant mice was rupture of the major blood vessels , similar to patients with <span class="disease">type IV Ehlers - Danlos syndrome</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: Ultrastructural analysis of tissues from mutant mice revealed that type III collagen is essential for normal collagen I fibrillogenesis in the cardiovascular system and other organs . .
### Output Text: | Ultrastructural analysis of tissues from mutant mice revealed that type III collagen is essential for normal collagen I fibrillogenesis in the cardiovascular system and other organs . . |
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: Nonsense mutation in exon 3 of the proteolipid protein gene ( PLP ) in a family with an unusual form of Pelizaeus - Merzbacher disease .
### Output Text: | Nonsense mutation in exon 3 of the proteolipid protein gene ( PLP ) in a family with an unusual form of <span class="disease">Pelizaeus - Merzbacher disease</span> . |
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