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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: Pendred patients in three non - consanguineous families were shown to be compound heterozygotes for L236P and T416P .
### Output Text: | <span class="disease">Pendred</span> patients in three non - consanguineous families were shown to be compound heterozygotes for L236P and T416P . |
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 total , one or both of these mutations were found in nine of the 14 families analyzed .
### Output Text: | In total , one or both of these mutations were found in nine of the 14 families analyzed . |
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 identification of two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome .
### Output Text: | The identification of two frequent <span class="disease">PDS</span> mutations will facilitate the molecular diagnosis of <span class="disease">Pendred 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Insertional mutation by transposable element , L1 , in the DMD gene results in X - linked dilated cardiomyopathy .
### Output Text: | Insertional mutation by transposable element , L1 , in the <span class="disease">DMD</span> gene results in <span class="disease">X - linked dilated cardiomyopathy</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: X - linked dilated cardiomyopathy ( XLDCM ) is a clinical phenotype of dystrophinopathy which is characterized by preferential myocardial involvement without any overt clinical signs of skeletal myopathy .
### Output Text: | <span class="disease">X - linked dilated cardiomyopathy</span> ( <span class="disease">XLDCM</span> ) is a clinical phenotype of <span class="disease">dystrophinopathy</span> which is characterized by preferential <span class="disease">myocardial involvement</span> without any overt clinical signs of <span class="disease">skeletal myopathy</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: To date , several mutations in the Duchenne muscular dystrophy gene , DMD , have been identified in patients with XLDCM , but a pathogenic correlation of these cardiospecific mutations in DMD with the XLDCM phenotype has remained to be elucidated .
### Output Text: | To date , several mutations in the <span class="disease">Duchenne muscular dystrophy</span> gene , DMD , have been identified in patients with <span class="disease">XLDCM</span> , but a pathogenic correlation of these cardiospecific mutations in DMD with the <span class="disease">XLDCM</span> phenotype has remained to be elucidated . |
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:
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### Input Text: We report here the identification of a unique de novo L1 insertion in the muscle exon 1 in DMD in three XLDCM patients from two unrelated Japanese families .
### Output Text: | We report here the identification of a unique de novo L1 insertion in the muscle exon 1 in DMD in three <span class="disease">XLDCM</span> patients from two unrelated Japanese 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: The insertion was a 5 - truncated form of human L1 inversely integrated in the 5 - untranslated region in the muscle exon 1 , which affected the transcription or the stability of the muscle form of dystrophin transcripts but not that of the brain or Purkinje cell form , probably due to its unique site of integration .
### Output Text: | The insertion was a 5 - truncated form of human L1 inversely integrated in the 5 - untranslated region in the muscle exon 1 , which affected the transcription or the stability of the muscle form of dystrophin transcripts but not that of the brain or Purkinje cell form , probably due to its unique site of integration . |
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 speculate that this insertion of an L1 sequence in DMD is responsible for some of the population of Japanese patients with XLDCM . .
### Output Text: | We speculate that this insertion of an L1 sequence in DMD is responsible for some of the population of Japanese patients with <span class="disease">XLDCM</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:
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### Input Text: Severe early - onset obesity , adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans .
### Output Text: | Severe early - onset <span class="disease">obesity</span> , <span class="disease">adrenal insufficiency</span> and red hair pigmentation caused by POMC mutations in humans . |
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: Sequential cleavage of the precursor protein pre - pro - opiomelanocortin ( POMC ) generates the melanocortin peptides adrenocorticotrophin ( ACTH ) , melanocyte - stimulating hormones ( MSH ) alpha , beta and gamma as well as the opioid - receptor ligand beta - endorphin .
### Output Text: | Sequential cleavage of the precursor protein pre - pro - opiomelanocortin ( POMC ) generates the melanocortin peptides adrenocorticotrophin ( ACTH ) , melanocyte - stimulating hormones ( MSH ) alpha , beta and gamma as well as the opioid - receptor ligand beta - endorphin . |
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 a few cases of isolated ACTH deficiency have been reported ( OMIM 201400 ) , an inherited POMC defect has not been described so far .
### Output Text: | While a few cases of isolated <span class="disease">ACTH deficiency</span> have been reported ( OMIM 201400 ) , an inherited POMC defect has not been described so far . |
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 studies in animal models elucidated a central role of alpha - MSH in the regulation of food intake by activation of the brain melanocortin - 4 - receptor ( MC4 - R ; refs 3 - 5 ) and the linkage of human obesity to chromosome 2 in close proximity to the POMC locus , led to the proposal of an association of POMC with human obesity .
### Output Text: | Recent studies in animal models elucidated a central role of alpha - MSH in the regulation of food intake by activation of the brain melanocortin - 4 - receptor ( MC4 - R ; refs 3 - 5 ) and the linkage of human <span class="disease">obesity</span> to chromosome 2 in close proximity to the POMC locus , led to the proposal of an association of POMC with human <span class="disease">obesity</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 dual role of alpha - MSH in regulating food intake and influencing hair pigmentation predicts that the phenotype associated with a defect in POMC function would include obesity , alteration in pigmentation and ACTH deficiency .
### Output Text: | The dual role of alpha - MSH in regulating food intake and influencing hair pigmentation predicts that the phenotype associated with a defect in POMC function would include <span class="disease">obesity</span> , alteration in pigmentation and <span class="disease">ACTH 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: The observation of these symptoms in two probands prompted us to search for mutations within their POMC genes .
### Output Text: | The observation of these symptoms in two probands prompted us to search for mutations within their POMC genes . |
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: Patient 1 was found to be a compound heterozygote for two mutations in exon 3 ( G7013T , C7133delta ) which interfere with appropriate synthesis of ACTH and alpha - MSH .
### Output Text: | Patient 1 was found to be a compound heterozygote for two mutations in exon 3 ( G7013T , C7133delta ) which interfere with appropriate synthesis of ACTH and alpha - MSH . |
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: Patient 2 was homozygous for a mutation in exon 2 ( C3804A ) which abolishes POMC translation .
### Output Text: | Patient 2 was homozygous for a mutation in exon 2 ( C3804A ) which abolishes POMC translation . |
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 represent the first examples of a genetic defect within the POMC gene and define a new monogenic endocrine disorder resulting in early - onset obesity , adrenal insufficiency and red hair pigmentation . .
### Output Text: | These findings represent the first examples of a <span class="disease">genetic defect</span> within the POMC gene and define a new <span class="disease">monogenic endocrine disorder</span> resulting in early - onset <span class="disease">obesity</span> , <span class="disease">adrenal insufficiency</span> and red hair pigmentation . . |
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 European multicenter study of phenylalanine hydroxylase deficiency : classification of 105 mutations and a general system for genotype - based prediction of metabolic phenotype .
### Output Text: | A European multicenter study of <span class="disease">phenylalanine hydroxylase deficiency</span> : classification of 105 mutations and a general system for genotype - based prediction of metabolic 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: Phenylketonuria ( PKU ) and mild hyperphenylalaninemia ( MHP ) are allelic disorders caused by mutations in the gene encoding phenylalanine hydroxylase ( PAH ) .
### Output Text: | <span class="disease">Phenylketonuria</span> ( <span class="disease">PKU</span> ) and <span class="disease">mild hyperphenylalaninemia</span> ( <span class="disease">MHP</span> ) are <span class="disease">allelic disorders</span> caused by mutations in the gene encoding phenylalanine hydroxylase ( PAH ) . |
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: Previous studies have suggested that the highly variable metabolic phenotypes of PAH deficiency correlate with PAH genotypes .
### Output Text: | Previous studies have suggested that the highly variable metabolic phenotypes of <span class="disease">PAH deficiency</span> correlate with PAH 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: We identified both causative mutations in 686 patients from seven European centers .
### Output Text: | We identified both causative mutations in 686 patients from seven European centers . |
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 the basis of the phenotypic characteristics of 297 functionally hemizygous patients , 105 of the mutations were assigned to one of four arbitrary phenotype categories .
### Output Text: | On the basis of the phenotypic characteristics of 297 functionally hemizygous patients , 105 of the mutations were assigned to one of four arbitrary phenotype categories . |
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 proposed and tested a simple model for correlation between genotype and phenotypic outcome .
### Output Text: | We proposed and tested a simple model for correlation between genotype and phenotypic outcome . |
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 observed phenotype matched the predicted phenotype in 79 % of the cases , and in only 5 of 184 patients was the observed phenotype more than one category away from that expected .
### Output Text: | The observed phenotype matched the predicted phenotype in 79 % of the cases , and in only 5 of 184 patients was the observed phenotype more than one category away from that expected . |
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: Among the seven contributing centers , the proportion of patients for whom the observed phenotype did not match the predicted phenotype was 4 % - 23 % ( P < . 0001 ) , suggesting that differences in methods used for mutation detection or phenotype classification may account for a considerable proportion of genotype - phenotype inconsistencies .
### Output Text: | Among the seven contributing centers , the proportion of patients for whom the observed phenotype did not match the predicted phenotype was 4 % - 23 % ( P < . 0001 ) , suggesting that differences in methods used for mutation detection or phenotype classification may account for a considerable proportion of genotype - phenotype inconsistencies . |
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: Our data indicate that the PAH - mutation genotype is the main determinant of metabolic phenotype in most patients with PAH deficiency .
### Output Text: | Our data indicate that the PAH - mutation genotype is the main determinant of metabolic phenotype in most patients with <span class="disease">PAH 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: In the present study , the classification of 105 PAH mutations may allow the prediction of the biochemical phenotype in > 10 , 000 genotypes , which may be useful for the management of hyperphenylalaninemia in newborns .
### Output Text: | In the present study , the classification of 105 PAH mutations may allow the prediction of the biochemical phenotype in > 10 , 000 genotypes , which may be useful for the management of <span class="disease">hyperphenylalaninemia</span> in newborns . |
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: Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities .
### Output Text: | Somatic instability of the CTG repeat in mice transgenic for the <span class="disease">myotonic dystrophy</span> region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities . |
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 ( CTG ) nexpansion in the 3 - untranslated region ( UTR ) of the DM protein kinase gene ( DMPK ) is responsible for causing myotonic dystrophy ( DM ) .
### Output Text: | A ( CTG ) nexpansion in the 3 - untranslated region ( UTR ) of the DM protein kinase gene ( DMPK ) is responsible for causing <span class="disease">myotonic dystrophy</span> ( <span class="disease">DM</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: Major instability , with very large expansions between generations and high levels of somatic mosaicism , is observed in patients .
### Output Text: | Major instability , with very large expansions between generations and high levels of somatic mosaicism , is observed in 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: There is a good correlation between repeat size ( at least in leucocytes ) , clinical severity and age of onset .
### Output Text: | There is a good correlation between repeat size ( at least in leucocytes ) , 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 trinucleotide repeat instability mechanisms involved in DM and other human genetic diseases are unknown .
### Output Text: | The trinucleotide repeat instability mechanisms involved in <span class="disease">DM</span> and other human <span class="disease">genetic diseases</span> are unknown . |
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 somatic instability by measuring the CTG repeat length at several ages in various tissues of transgenic mice carrying a ( CTG ) 55expansion surrounded by 45 kb of the human DM region , using small - pool PCR .
### Output Text: | We studied somatic instability by measuring the CTG repeat length at several ages in various tissues of transgenic mice carrying a ( CTG ) 55expansion surrounded by 45 kb of the human <span class="disease">DM</span> region , using small - pool 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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### Input Text: These mice have been shown to reproduce the intergenerational and somatic instability of the 55 CTG repeat suggesting that surrounding sequences and the chromatin environment are involved in instability mechanisms .
### Output Text: | These mice have been shown to reproduce the intergenerational and somatic instability of the 55 CTG repeat suggesting that surrounding sequences and the chromatin environment are involved in instability mechanisms . |
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 observed in some of the tissues of DM patients , there is a tendency for repeat length and somatic mosaicism to increase with the age of the mouse .
### Output Text: | As observed in some of the tissues of <span class="disease">DM</span> patients , there is a tendency for repeat length and somatic mosaicism to increase with the age of the 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: Furthermore , we observed no correlation between the somatic mutation rate and tissue proliferation capacity .
### Output Text: | Furthermore , we observed no correlation between the somatic mutation rate and tissue proliferation capacity . |
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 somatic mutation rates in different tissues were also not correlated to the relative inter - tissue difference in transcriptional levels of the three genes ( DMAHP , DMPK and 59 ) surrounding the repeat . .
### Output Text: | The somatic mutation rates in different tissues were also not correlated to the relative inter - tissue difference in transcriptional levels of the three genes ( DMAHP , DMPK and 59 ) surrounding the repeat . . |
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 novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype .
### Output Text: | A novel missense mutation in patients from a <span class="disease">retinoblastoma</span> pedigree showing only mild expression of the <span class="disease">tumor</span> 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: We have used single strand conformation polymorphism analysis to study the 27 exons of the RB1 gene in individuals from a family showing mild expression of the retinoblastoma phenotype .
### Output Text: | We have used single strand conformation polymorphism analysis to study the 27 exons of the RB1 gene in individuals from a family showing mild expression of the <span class="disease">retinoblastoma</span> 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: In this family affected individuals developed unilateral tumors and , as a result of linkage analysis , unaffected mutation carriers were also identified within the pedigree .
### Output Text: | In this family affected individuals developed <span class="disease">unilateral tumors</span> and , as a result of linkage analysis , unaffected mutation carriers were also identified within the pedigree . |
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 single band shift using SSCP was identified in exon 21 which resulted in a missense mutation converting a cys - - > arg at nucleotide position 28 in the exon .
### Output Text: | A single band shift using SSCP was identified in exon 21 which resulted in a missense mutation converting a cys - - > arg at nucleotide position 28 in the exon . |
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 mutation destroyed an NdeI restriction enzyme site .
### Output Text: | The mutation destroyed an NdeI restriction enzyme site . |
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: Analysis of all family members demonstrated that the missense mutation co - segregated with patients with tumors or who , as a result of linkage analysis had been predicted to carry the predisposing mutation .
### Output Text: | Analysis of all family members demonstrated that the missense mutation co - segregated with patients with <span class="disease">tumors</span> or who , as a result of linkage analysis had been predicted to carry the predisposing 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: These observations point to another region of the RB1 gene where mutations only modify the function of the gene and raise important questions for genetic counseling in families with these distinctive phenotypes . .
### Output Text: | These observations point to another region of the RB1 gene where mutations only modify the function of the gene and raise important questions for genetic counseling in families with these distinctive 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: Maternal disomy and Prader - Willi syndrome consistent with gamete complementation in a case of familial translocation ( 3 ; 15 ) ( p25 ; q11 . 2 ) .
### Output Text: | <span class="disease">Maternal disomy</span> and <span class="disease">Prader - Willi syndrome</span> consistent with gamete complementation in a case of familial translocation ( 3 ; 15 ) ( p25 ; q11 . 2 ) . |
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: Maternal uniparental disomy ( UPD ) for chromosome 15 is responsible for an estimated 30 % of cases of Prader - Willi syndrome ( PWS ) .
### Output Text: | <span class="disease">Maternal uniparental disomy ( UPD ) for chromosome 15</span> is responsible for an estimated 30 % of cases of <span class="disease">Prader - Willi syndrome</span> ( <span class="disease">PWS</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 report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent - 1 segregation of a paternal t ( 3 ; 15 ) ( p25 ; q11 . 2 ) with simultaneous maternal meiotic nondisjunction for chromosome 15 .
### Output Text: | We report on an unusual case of <span class="disease">maternal disomy 15</span> in <span class="disease">PWS</span> that is most consistent with adjacent - 1 segregation of a paternal t ( 3 ; 15 ) ( p25 ; q11 . 2 ) with simultaneous maternal meiotic nondisjunction for chromosome 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: The patient ( J . B . ) , a 17 - year - old white male with PWS , was found to have 47 chromosomes with a supernumerary , paternal der ( 15 ) consisting of the short arm and the proximal long arm of chromosome 15 , and distal chromosome arm 3p .
### Output Text: | The patient ( J . B . ) , a 17 - year - old white male with <span class="disease">PWS</span> , was found to have 47 chromosomes with a supernumerary , paternal der ( 15 ) consisting of the short arm and the proximal long arm of chromosome 15 , and distal chromosome arm 3p . |
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 t ( 3 ; 15 ) was present in the balanced state in the patients father and a sister .
### Output Text: | The t ( 3 ; 15 ) was present in the balanced state in the patients father and a sister . |
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: Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J .
### Output Text: | Fluorescent in situ hybridization analysis demonstrated that the <span class="disease">PWS</span> critical region resided on the derivative chromosome 3 and that there was no deletion of the <span class="disease">PWS</span> region on the normal pair of 15s present in J . |
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: B .
### Output Text: | B . |
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: Methylation analysis at exon alpha of the small nuclear ribonucleoprotein - associated polypeptide N ( SNRPN ) gene showed a pattern characteristic of only the maternal chromosome 15 in J .
### Output Text: | Methylation analysis at exon alpha of the small nuclear ribonucleoprotein - associated polypeptide N ( SNRPN ) gene showed a pattern characteristic of only the maternal chromosome 15 in J . |
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: B .
### Output Text: | B . |
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: Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma - aminobutyric acid receptor beta3 subunit ( GABRB3 ) locus .
### Output Text: | <span class="disease">Maternal disomy</span> was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma - aminobutyric acid receptor beta3 subunit ( GABRB3 ) 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 niece ( B . B . ) with 45 chromosomes and the derivative 3 but without the der ( 15 ) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p .
### Output Text: | A niece ( B . B . ) with 45 chromosomes and the derivative 3 but without the der ( 15 ) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p . |
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: Uniparental disomy associated with unbalanced segregation of non - Robertsonian translocations has been reported previously but has not , to our knowledge , been observed in a case of PWS .
### Output Text: | <span class="disease">Uniparental disomy</span> associated with unbalanced segregation of non - Robertsonian translocations has been reported previously but has not , to our knowledge , been observed in a case of <span class="disease">PWS</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: Furthermore , our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS
### Output Text: | Furthermore , our findings are best interpreted as true gamete complementation resulting in <span class="disease">maternal UPD 15</span> and <span class="disease">PWS</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: Schwartz - Jampel syndrome type 2 and Stuve - Wiedemann syndrome : a case for " lumping " .
### Output Text: | <span class="disease">Schwartz - Jampel syndrome type 2</span> and <span class="disease">Stuve - Wiedemann syndrome</span> : a case for " lumping " . |
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 studies demonstrated the existence of a genetically distinct , usually lethal form of the Schwartz - Jampel syndrome ( SJS ) of myotonia and skeletal dysplasia , which we called SJS type 2 .
### Output Text: | Recent studies demonstrated the existence of a genetically distinct , usually lethal form of the <span class="disease">Schwartz - Jampel syndrome</span> ( <span class="disease">SJS</span> ) of <span class="disease">myotonia</span> and <span class="disease">skeletal dysplasia</span> , which we called <span class="disease">SJS type 2</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: This disorder is reminiscent of another rare condition , the Stuve - Wiedemann syndrome ( SWS ) , which comprises campomelia at birth with skeletal dysplasia , contractures , and early death .
### Output Text: | This disorder is reminiscent of another rare condition , the <span class="disease">Stuve - Wiedemann syndrome</span> ( <span class="disease">SWS</span> ) , which comprises <span class="disease">campomelia</span> at birth with <span class="disease">skeletal dysplasia</span> , <span class="disease">contractures</span> , and <span class="disease">early death</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 test for possible nosologic identity between these disorders , we reviewed the literature and obtained a follow - up of the only two surviving patients , one with SJS type 2 at age 10 years and another with SWS at age 7 years .
### Output Text: | To test for possible nosologic identity between these disorders , we reviewed the literature and obtained a follow - up of the only two surviving patients , one with <span class="disease">SJS type 2</span> at age 10 years and another with <span class="disease">SWS</span> at age 7 years . |
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: Patients reported as having either neonatal SJS or SWS presented a combination of a severe , prenatal - onset neuromuscular disorder ( with congenital joint contractures , respiratory and feeding difficulties , tendency to hyperthermia , and frequent death in infancy ) with a distinct campomelic - metaphyseal skeletal dysplasia .
### Output Text: | Patients reported as having either neonatal <span class="disease">SJS</span> or <span class="disease">SWS</span> presented a combination of a severe , prenatal - onset <span class="disease">neuromuscular disorder</span> ( with <span class="disease">congenital joint contractures</span> , respiratory and feeding difficulties , tendency to <span class="disease">hyperthermia</span> , and frequent death in infancy ) with a distinct <span class="disease">campomelic - metaphyseal skeletal 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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### Input Text: The similarity of the clinical and radiographic findings is so extensive that these disorders appear to be a single entity .
### Output Text: | The similarity of the clinical and radiographic findings is so extensive that these disorders appear to be a single entity . |
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 follow - up observation of an identical and unique pattern of progressive bone dysplasia in the two patients ( one with SJS type 2 , one with SWS ) surviving beyond infancy adds to the evidence in favor of identity .
### Output Text: | The follow - up observation of an identical and unique pattern of progressive <span class="disease">bone dysplasia</span> in the two patients ( one with <span class="disease">SJS type 2</span> , one with <span class="disease">SWS</span> ) surviving beyond infancy adds to the evidence in favor of identity . |
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 hypothesis that SWS and SJS type 2 are the same disorder should be testable by molecular methods . .
### Output Text: | The hypothesis that <span class="disease">SWS</span> and <span class="disease">SJS type 2</span> are the same disorder should be testable by molecular methods . . |
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 mouse model of severe von Willebrand disease : defects in hemostasis and thrombosis .
### Output Text: | A mouse model of severe <span class="disease">von Willebrand disease</span> : defects in hemostasis and <span class="disease">thrombosis</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: von Willebrand factor ( vWf ) deficiency causes severe von Willebrand disease in humans .
### Output Text: | <span class="disease">von Willebrand factor ( vWf ) deficiency</span> causes severe <span class="disease">von Willebrand disease</span> in humans . |
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 generated a mouse model for this disease by using gene targeting .
### Output Text: | We generated a mouse model for this disease by using gene targeting . |
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: vWf - deficient mice appeared normal at birth ; they were viable and fertile .
### Output Text: | <span class="disease">vWf - deficient</span> mice appeared normal at birth ; they were viable and fertile . |
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: Neither vWf nor vWf propolypeptide ( von Willebrand antigen II ) were detectable in plasma , platelets , or endothelial cells of the homozygous mutant mice .
### Output Text: | Neither vWf nor vWf propolypeptide ( <span class="disease">von Willebrand</span> antigen II ) were detectable in plasma , platelets , or endothelial cells of the homozygous mutant 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 mutant mice exhibited defects in hemostasis with a highly prolonged bleeding time and spontaneous bleeding events in approximately 10 % of neonates .
### Output Text: | The mutant mice exhibited defects in hemostasis with a highly prolonged bleeding time and spontaneous bleeding events in approximately 10 % of neonates . |
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 in the human disease , the factor VIII level in these mice was reduced strongly as a result of the lack of protection provided by vWf .
### Output Text: | As in the human disease , the factor VIII level in these mice was reduced strongly as a result of the lack of protection provided by vWf . |
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: Defective thrombosis in mutant mice was also evident in an in vivo model of vascular injury .
### Output Text: | Defective <span class="disease">thrombosis</span> in mutant mice was also evident in an in vivo model of <span class="disease">vascular injury</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 this model , the exteriorized mesentery was superfused with ferric chloride and the accumulation of fluorescently labeled platelets was observed by intravital microscopy .
### Output Text: | In this model , the exteriorized mesentery was superfused with ferric chloride and the accumulation of fluorescently labeled platelets was observed by intravital microscopy . |
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 these mice very closely mimic severe human von Willebrand disease and will be very useful for investigating the role of vWf in normal physiology and in disease models . .
### Output Text: | We conclude that these mice very closely mimic severe human <span class="disease">von Willebrand disease</span> and will be very useful for investigating the role of vWf in normal physiology and in disease models . . |
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: Oral contraceptives and the risk of hereditary ovarian cancer .
### Output Text: | Oral contraceptives and the risk of <span class="disease">hereditary ovarian 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: Hereditary Ovarian Cancer Clinical Study Group .
### Output Text: | <span class="disease">Hereditary Ovarian Cancer</span> Clinical Study Group . |
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: BACKGROUND Women with mutations in either the BRCA1 or the BRCA2 gene have a high lifetime risk of ovarian cancer .
### Output Text: | BACKGROUND Women with mutations in either the BRCA1 or the BRCA2 gene have a high lifetime risk of <span class="disease">ovarian 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: Oral contraceptives protect against ovarian cancer in general , but it is not known whether they also protect against hereditary forms of ovarian cancer .
### Output Text: | Oral contraceptives protect against <span class="disease">ovarian cancer</span> in general , but it is not known whether they also protect against <span class="disease">hereditary forms of ovarian 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: METHODS We enrolled 207 women with hereditary ovarian cancer and 161 of their sisters as controls in a case - control study .
### Output Text: | METHODS We enrolled 207 women with <span class="disease">hereditary ovarian cancer</span> and 161 of their sisters as controls in a case - control study . |
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 the patients carried a pathogenic mutation in either BRCA1 ( 179 women ) or BRCA2 ( 28 women ) .
### Output Text: | All the patients carried a pathogenic mutation in either BRCA1 ( 179 women ) or BRCA2 ( 28 women ) . |
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 control women were enrolled regardless of whether or not they had either mutation .
### Output Text: | The control women were enrolled regardless of whether or not they had either 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: Lifetime histories of oral - contraceptive use were obtained by interview or by written questionnaire and were compared between patients and control women , after adjustment for year of birth and parity .
### Output Text: | Lifetime histories of oral - contraceptive use were obtained by interview or by written questionnaire and were compared between patients and control women , after adjustment for year of birth and parity . |
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: RESULTS The adjusted odds ratio for ovarian cancer associated with any past use of oral contraceptives was 0 .
### Output Text: | RESULTS The adjusted odds ratio for <span class="disease">ovarian cancer</span> associated with any past use of oral contraceptives was 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.
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### Input Text: 5 ( 95 percent confidence interval , 0 . 3 to 0 . 8 ) .
### Output Text: | 5 ( 95 percent confidence interval , 0 . 3 to 0 . 8 ) . |
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 risk decreased with increasing duration of use ( P for trend , < 0 . 001 ) ; use for six or more years was associated with a 60 percent reduction in risk .
### Output Text: | The risk decreased with increasing duration of use ( P for trend , < 0 . 001 ) ; use for six or more years was associated with a 60 percent reduction in 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.
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### Input Text: Oral - contraceptive use protected against ovarian cancer both for carriers of the BRCA1 mutation ( odds ratio , 0 . 5 ; 95 percent confidence interval , 0 . 3 to 0 . 9 ) and for carriers of the BRCA2 mutation ( odds ratio , 0 . 4 ; 95 percent confidence interval , 0 . 2 to 1 . 1 ) .
### Output Text: | Oral - contraceptive use protected against <span class="disease">ovarian cancer</span> both for carriers of the BRCA1 mutation ( odds ratio , 0 . 5 ; 95 percent confidence interval , 0 . 3 to 0 . 9 ) and for carriers of the BRCA2 mutation ( odds ratio , 0 . 4 ; 95 percent confidence interval , 0 . 2 to 1 . 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.
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### Input Text: CONCLUSIONS Oral - contraceptive use may reduce the risk of ovarian cancer in women with pathogenic mutations in the BRCA1 or BRCA2 gene
### Output Text: | CONCLUSIONS Oral - contraceptive use may reduce the risk of <span class="disease">ovarian cancer</span> in women with pathogenic mutations in the BRCA1 or 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: A Japanese family with adrenoleukodystrophy with a codon 291 deletion : a clinical , biochemical , pathological , and genetic report .
### Output Text: | A Japanese family with <span class="disease">adrenoleukodystrophy</span> with a codon 291 deletion : a clinical , biochemical , pathological , and genetic report . |
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 Japanese family with adrenoleukodystrophy ( ALD ) with a three base pair deletion ( delGAG 291 ) in the ALD gene .
### Output Text: | We report a Japanese family with <span class="disease">adrenoleukodystrophy</span> ( <span class="disease">ALD</span> ) with a three base pair deletion ( delGAG 291 ) in the <span class="disease">ALD</span> 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: A variety of phenotypes were observed within this family .
### Output Text: | A variety of phenotypes were observed within this 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: While the proband ( patient 1 ) was classified as having a rare intermediate type of adult cerebral and cerebello - brain stem forms , his younger brother ( patient 2 ) and nephew ( patient 3 ) had a childhood ALD type .
### Output Text: | While the proband ( patient 1 ) was classified as having a rare intermediate type of adult cerebral and cerebello - brain stem forms , his younger brother ( patient 2 ) and nephew ( patient 3 ) had a childhood <span class="disease">ALD</span> type . |
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: Another nephew ( patient 4 ) of patient 1 was classified as having an adolescent form .
### Output Text: | Another nephew ( patient 4 ) of patient 1 was classified as having an adolescent form . |
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 tau level in the cerebrospinal fluid ( CSF ) in patient 1 was as high as that of patients with Alzheimers disease ( AD ) .
### Output Text: | The tau level in the cerebrospinal fluid ( CSF ) in patient 1 was as high as that of patients with <span class="disease">Alzheimers disease</span> ( <span class="disease">AD</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: His brain magnetic resonance image ( MRI ) showed abnormalities in the bilateral cerebellar hemispheres and brain stem , but not in the cerebral white matter , where marked reductions of the cerebral blood flow and oxygen metabolism were clearly demonstrated by positron emission tomography ( PET ) .
### Output Text: | His brain magnetic resonance image ( MRI ) showed <span class="disease">abnormalities in the bilateral cerebellar hemispheres</span> and brain stem , but not in the cerebral white matter , where marked reductions of the cerebral blood flow and oxygen metabolism were clearly demonstrated by positron emission tomography ( PET ) . |
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 patients 2 and 3 , the autopsy findings showed massive demyelination of the cerebral white matter with sparing of the U - fibers , compatible with the findings of childhood ALD .
### Output Text: | In patients 2 and 3 , the autopsy findings showed massive <span class="disease">demyelination of the cerebral white matter</span> with sparing of the U - fibers , compatible with the findings of childhood <span class="disease">ALD</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: Oleic and erucic acids ( Lorenzos Oil ) were administered to patients 1 and 4 , but sufficient effectiveness was not obtained .
### Output Text: | Oleic and erucic acids ( Lorenzos Oil ) were administered to patients 1 and 4 , but sufficient effectiveness was not obtained . |
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 findings in this family suggest that delGAG291 is part of the cause of Japanese ALD with phenotypic variations .
### Output Text: | The findings in this family suggest that delGAG291 is part of the cause of Japanese <span class="disease">ALD</span> with phenotypic variations . |
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 , although the scale of the study is limited , there is a possibility that PET can detect an insidious lesion which is undetectable by computed tomogram ( CT ) or MRI analysis , and that the higher level of tau reflects the process of neuronal degeneration in ALD .
### Output Text: | Moreover , although the scale of the study is limited , there is a possibility that PET can detect an <span class="disease">insidious lesion</span> which is undetectable by computed tomogram ( CT ) or MRI analysis , and that the higher level of tau reflects the process of <span class="disease">neuronal degeneration</span> in <span class="disease">ALD</span> . |