Datasets:

clinicalnlplab

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NCBI_disease_test

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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: Since a mutation at cDNA nucleotide 2302 ( 2302insC ) had been previously described , this region of the ATP7B gene may be susceptible to gene rearrangements causing Wilson disease . ### Output Text:

Since a mutation at cDNA nucleotide 2302 ( 2302insC ) had been previously described , this region of the ATP7B gene may be susceptible to gene rearrangements causing <span class="disease">Wilson 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Disruption of splicing regulated by a CUG - binding protein in myotonic dystrophy . ### Output Text:

Disruption of splicing regulated by a CUG - binding protein in <span class="disease">myotonic dystrophy</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: Myotonic dystrophy ( DM ) is caused by a CTG expansion in the 3 untranslated region of the DM gene . ### Output Text:

<span class="disease">Myotonic dystrophy</span> ( <span class="disease">DM</span> ) is caused by a CTG expansion in the 3 untranslated region of the <span class="disease">DM</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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: One model of DM pathogenesis suggests that RNAs from the expanded allele create a gain - of - function mutation by the inappropriate binding of proteins to the CUG repeats . ### Output Text:

One model of <span class="disease">DM</span> pathogenesis suggests that RNAs from the expanded allele create a gain - of - function mutation by the inappropriate binding of proteins to the CUG repeats .

In the sentence extracted from 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: Data presented here indicate that the conserved heterogeneous nuclear ribonucleoprotein , CUG - binding protein ( CUG - BP ) , may mediate the trans - dominant effect of the RNA . ### Output Text:

Data presented here indicate that the conserved heterogeneous nuclear ribonucleoprotein , CUG - binding protein ( CUG - BP ) , may mediate the trans - dominant effect of the RNA .

In the sentence extracted from 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: CUG - BP was found to bind to the human cardiac troponin T ( cTNT ) pre - messenger RNA and regulate its alternative splicing . ### Output Text:

CUG - BP was found to bind to the human cardiac troponin T ( cTNT ) pre - messenger RNA and regulate its alternative splicing .

In the sentence extracted from 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: Splicing of cTNT was disrupted in DM striated muscle and in normal cells expressing transcripts that contain CUG repeats . ### Output Text:

Splicing of cTNT was disrupted in <span class="disease">DM</span> striated muscle and in normal cells expressing transcripts that contain CUG repeats .

In the sentence extracted from 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: Altered expression of genes regulated posttranscriptionally by CUG - BP therefore may contribute to DM pathogenesis . . ### Output Text:

Altered expression of genes regulated posttranscriptionally by CUG - BP therefore may contribute to <span class="disease">DM</span> pathogenesis . .

In the sentence extracted from 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: Identification of a novel nonsense mutation and a missense substitution in the vasopressin - neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus . ### Output Text:

Identification of a novel nonsense mutation and a missense substitution in the vasopressin - neurophysin II gene in two Spanish kindreds with <span class="disease">familial neurohypophyseal diabetes insipidus</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: Familial neurohypophyseal diabetes insipidus ( FNDI ) is an autosomal dominant disease caused by deficiency in the antidiuretic hormone arginine vasopressin ( AVP ) encoded by the AVP - neurophysin II ( AVP - NPII ) gene on chromosome 20p13 . ### Output Text:

<span class="disease">Familial neurohypophyseal diabetes insipidus</span> ( <span class="disease">FNDI</span> ) is an <span class="disease">autosomal dominant disease</span> caused by deficiency in the antidiuretic hormone arginine vasopressin ( AVP ) encoded by the AVP - neurophysin II ( AVP - NPII ) gene on chromosome 20p13 .

In the sentence extracted from 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 this study , we analyzed two families with FNDI using direct automated fluorescent , solid phase , single - stranded DNA sequencing of PCR - amplified AVP - NPII DNA . ### Output Text:

In this study , we analyzed two families with <span class="disease">FNDI</span> using direct automated fluorescent , solid phase , single - stranded DNA sequencing of PCR - amplified AVP - NPII DNA .

In the sentence extracted from 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 one of the families , affected individuals presented a novel nonsense mutation in exon 3 of the gene , consisting in a G to T transition at nucleotide 2101 , which produces a stop signal in codon 82 ( Glu ) of NPII . ### Output Text:

In one of the families , affected individuals presented a novel nonsense mutation in exon 3 of the gene , consisting in a G to T transition at nucleotide 2101 , which produces a stop signal in codon 82 ( Glu ) of NPII .

In the sentence extracted from 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 premature termination eliminates part of the C - terminal domain of NPII , including a cysteine residue in position 85 , which could be involved in the correct folding of the prohormone . ### Output Text:

The premature termination eliminates part of the C - terminal domain of NPII , including a cysteine residue in position 85 , which could be involved in the correct folding of the prohormone .

In the sentence extracted from 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 the second family , a G279A substitution at position - 1 of the signal peptide was observed in all affected individuals . ### Output Text:

In the second family , a G279A substitution at position - 1 of the signal peptide was observed in all affected individuals .

In the sentence extracted from 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: This missense mutation , which replaces Ala with Thr , is frequent among FNDI patients and is thought to reduce the efficiency of cleavage by signal peptidases . . ### Output Text:

This missense mutation , which replaces Ala with Thr , is frequent among <span class="disease">FNDI</span> patients and is thought to reduce the efficiency of cleavage by signal peptidases . .

In the sentence extracted from 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: Genetic heterogeneity of Saethre - Chotzen syndrome , due to TWIST and FGFR mutations . ### Output Text:

Genetic heterogeneity of <span class="disease">Saethre - Chotzen syndrome</span> , due to TWIST and FGFR mutations .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Thirty - two unrelated patients with features of Saethre - Chotzen syndrome , a common autosomal dominant condition of craniosynostosis and limb anomalies , were screened for mutations in TWIST , FGFR2 , and FGFR3 . ### Output Text:

Thirty - two unrelated patients with features of <span class="disease">Saethre - Chotzen syndrome</span> , a common <span class="disease">autosomal dominant condition</span> of <span class="disease">craniosynostosis</span> and <span class="disease">limb anomalies</span> , were screened for mutations in TWIST , FGFR2 , and FGFR3 .

In the sentence extracted from 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: Nine novel and three recurrent TWIST mutations were found in 12 families . ### Output Text:

Nine novel and three recurrent TWIST mutations were found in 12 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Seven families were found to have the FGFR3 P250R mutation , and one individual was found to have an FGFR2 VV269 - 270 deletion . ### Output Text:

Seven families were found to have the FGFR3 P250R mutation , and one individual was found to have an FGFR2 VV269 - 270 deletion .

In the sentence extracted from 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 , our detection rate for TWIST or FGFR mutations is 68 % in our Saethre - Chotzen syndrome patients , including our five patients elsewhere reported with TWIST mutations . ### Output Text:

To date , our detection rate for TWIST or FGFR mutations is 68 % in our <span class="disease">Saethre - Chotzen syndrome</span> patients , including our five patients elsewhere reported with TWIST mutations .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: More than 35 different TWIST mutations are now known in the literature . ### Output Text:

More than 35 different TWIST mutations are now known in the literature .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The most common phenotypic features , present in more than a third of our patients with TWIST mutations , are coronal synostosis , brachycephaly , low frontal hairline , facial asymmetry , ptosis , hypertelorism , broad great toes , and clinodactyly . ### Output Text:

The most common phenotypic features , present in more than a third of our patients with TWIST mutations , are <span class="disease">coronal synostosis</span> , <span class="disease">brachycephaly</span> , <span class="disease">low frontal hairline</span> , <span class="disease">facial asymmetry</span> , <span class="disease">ptosis</span> , <span class="disease">hypertelorism</span> , <span class="disease">broad great toes</span> , and <span class="disease">clinodactyly</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: Significant intra - and interfamilial phenotypic variability is present for either TWIST mutations or FGFR mutations . ### Output Text:

Significant intra - and interfamilial phenotypic variability is present for either TWIST mutations or FGFR mutations .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The overlap in clinical features and the presence , in the same genes , of mutations for more than one craniosynostotic condition - such as Saethre - Chotzen , Crouzon , and Pfeiffer syndromes - support the hypothesis that TWIST and FGFRs are components of the same molecular pathway involved in the modulation of craniofacial and limb development in humans . . ### Output Text:

The overlap in clinical features and the presence , in the same genes , of mutations for more than one <span class="disease">craniosynostotic condition</span> - such as <span class="disease">Saethre - Chotzen , Crouzon , and Pfeiffer syndromes</span> - support the hypothesis that TWIST and FGFRs are components of the same molecular pathway involved in the modulation of craniofacial and limb development 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Mutation analysis of UBE3A in Angelman syndrome patients . ### Output Text:

Mutation analysis of UBE3A in <span class="disease">Angelman syndrome</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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Angelman syndrome ( AS ) is caused by chromosome 15q11 - q13 deletions of maternal origin , by paternal uniparental disomy ( UPD ) 15 , by imprinting defects , and by mutations in the UBE3A gene . ### Output Text:

<span class="disease">Angelman syndrome</span> ( <span class="disease">AS</span> ) is caused by chromosome 15q11 - q13 deletions of maternal origin , by paternal <span class="disease">uniparental disomy</span> ( <span class="disease">UPD</span> ) 15 , by imprinting defects , and by mutations in the UBE3A 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: UBE3A encodes a ubiquitin - protein ligase and shows brain - specific imprinting . ### Output Text:

UBE3A encodes a ubiquitin - protein ligase and shows brain - specific imprinting .

In the sentence extracted from 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: Here we describe UBE3A coding - region mutations detected by SSCP analysis in 13 AS individuals or families . ### Output Text:

Here we describe UBE3A coding - region mutations detected by SSCP analysis in 13 <span class="disease">AS</span> individuals or 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Two identical de novo 5 - bp duplications in exon 16 were found . ### Output Text:

Two identical de novo 5 - bp duplications in exon 16 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Among the other 11 unique mutations , 8 were small deletions or insertions predicted to cause frameshifts , 1 was a mutation to a stop codon , 1 was a missense mutation , and 1 was predicted to cause insertion of an isoleucine in the hect domain of the UBE3A protein , which functions in E2 binding and ubiquitin transfer . ### Output Text:

Among the other 11 unique mutations , 8 were small deletions or insertions predicted to cause frameshifts , 1 was a mutation to a stop codon , 1 was a missense mutation , and 1 was predicted to cause insertion of an isoleucine in the hect domain of the UBE3A protein , which functions in E2 binding and ubiquitin transfer .

In the sentence extracted from 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: Eight of the cases were familial , and five were sporadic . ### Output Text:

Eight of the cases were familial , and five were sporadic .

In the sentence extracted from 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 two familial cases and one sporadic case , mosaicism for UBE3A mutations was detected in the mother of three AS sons , in the maternal grandfather of two AS first cousins , and in the mother of an AS daughter . ### Output Text:

In two familial cases and one sporadic case , mosaicism for UBE3A mutations was detected in the mother of three <span class="disease">AS</span> sons , in the maternal grandfather of two <span class="disease">AS</span> first cousins , and in the mother of an <span class="disease">AS</span> daughter .

In the sentence extracted from 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 frequencies with which we detected mutations were 5 ( 14 % ) of 35 in sporadic cases and 8 ( 80 % ) of 10 in familial cases . . ### Output Text:

The frequencies with which we detected mutations were 5 ( 14 % ) of 35 in sporadic cases and 8 ( 80 % ) of 10 in familial 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The hemochromatosis 845 G - - > A and 187 C - - > G mutations : prevalence in non - Caucasian populations . ### Output Text:

The <span class="disease">hemochromatosis</span> 845 G - - > A and 187 C - - > G mutations : prevalence in non - Caucasian populations .

In the sentence extracted from 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: Hemochromatosis , the inherited disorder of iron metabolism , leads , if untreated , to progressive iron overload and premature death . ### Output Text:

<span class="disease">Hemochromatosis</span> , the <span class="disease">inherited disorder of iron metabolism</span> , leads , if untreated , to progressive <span class="disease">iron overload</span> and <span class="disease">premature 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The hemochromatosis gene , HFE , recently has been identified , and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions - cDNA nucleotides 845 G - - > A ( C282Y ) and 187 C - - > G ( H63D ) . ### Output Text:

The <span class="disease">hemochromatosis</span> gene , HFE , recently has been identified , and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions - cDNA nucleotides 845 G - - > A ( C282Y ) and 187 C - - > G ( H63D ) .

In the sentence extracted from 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: Although hemochromatosis is common in Caucasians , affecting > = 1 / 300 individuals of northern European origin , it has not been recognized in other populations . ### Output Text:

Although <span class="disease">hemochromatosis</span> is common in Caucasians , affecting > = 1 / 300 individuals of northern European origin , it has not been recognized in other populations .

In the sentence extracted from 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 present study used PCR and restriction - enzyme digestion to analyze the frequency of the 845 G - - > A and 187 C - - > G mutations in HLA - typed samples from non - Caucasian populations , comprising Australian Aboriginal , Chinese , and Pacific Islanders . ### Output Text:

The present study used PCR and restriction - enzyme digestion to analyze the frequency of the 845 G - - > A and 187 C - - > G mutations in HLA - typed samples from non - Caucasian populations , comprising Australian Aboriginal , Chinese , and Pacific Islanders .

In the sentence extracted from 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: Results showed that the 845 G - - > A mutation was present in these populations ( allele frequency 0 . 32 % ) , and , furthermore , it was always seen in conjunction with HLA haplotypes common in Caucasians , suggesting that 845 G - - > A may have been introduced into these populations by Caucasian admixture . ### Output Text:

Results showed that the 845 G - - > A mutation was present in these populations ( allele frequency 0 . 32 % ) , and , furthermore , it was always seen in conjunction with HLA haplotypes common in Caucasians , suggesting that 845 G - - > A may have been introduced into these populations by Caucasian admixture .

In the sentence extracted from 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: 187 C - - > G was present at an allele frequency of 2 . ### Output Text:

187 C - - > G was present at an allele frequency of 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 68 % in the two populations analyzed ( Australian Aboriginal and Chinese ) . ### Output Text:

68 % in the two populations analyzed ( Australian Aboriginal and Chinese ) .

In the sentence extracted from 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 the Australian Aboriginal samples , 187 C - - > G was found to be associated with HLA haplotypes common in Caucasians , suggesting that it was introduced by recent admixture . ### Output Text:

In the Australian Aboriginal samples , 187 C - - > G was found to be associated with HLA haplotypes common in Caucasians , suggesting that it was introduced by recent admixture .

In the sentence extracted from 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 the Chinese samples analyzed , 187 C - - > G was present in association with a wide variety of HLA haplotypes , showing this mutation to be widespread and likely to predate the more genetically restricted 845 G - - > A mutation . ### Output Text:

In the Chinese samples analyzed , 187 C - - > G was present in association with a wide variety of HLA haplotypes , showing this mutation to be widespread and likely to predate the more genetically restricted 845 G - - > A 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Genotype - phenotype correlations in attenuated adenomatous polyposis coli . ### Output Text:

Genotype - phenotype correlations in <span class="disease">attenuated adenomatous polyposis coli</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: Germ - line mutations of the tumor suppressor APC are implicated in attenuated adenomatous polyposis coli ( AAPC ) , a variant of familial adenomatous polyposis ( FAP ) . ### Output Text:

Germ - line mutations of the <span class="disease">tumor</span> suppressor APC are implicated in <span class="disease">attenuated adenomatous polyposis coli</span> ( <span class="disease">AAPC</span> ) , a variant of <span class="disease">familial adenomatous polyposis</span> ( <span class="disease">FAP</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: AAPC is recognized by the occurrence of < 100 colonic adenomas and a later onset of colorectal cancer ( age > 40 years ) . ### Output Text:

<span class="disease">AAPC</span> is recognized by the occurrence of < 100 <span class="disease">colonic adenomas</span> and a later onset of <span class="disease">colorectal cancer</span> ( age > 40 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The aim of this study was to assess genotype - phenotype correlations in AAPC families . ### Output Text:

The aim of this study was to assess genotype - phenotype correlations in <span class="disease">AAPC</span> 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: By protein - truncation test ( PTT ) assay , the entire coding region of the APC gene was screened in affected individuals from 11 AAPC kindreds , and their phenotypic differences were examined . ### Output Text:

By protein - truncation test ( PTT ) assay , the entire coding region of the <span class="disease">APC</span> gene was screened in affected individuals from 11 <span class="disease">AAPC</span> kindreds , and their phenotypic differences were examined .

In the sentence extracted from 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: Five novel germ - line APC mutations were identified in seven kindreds . ### Output Text:

Five novel germ - line <span class="disease">APC</span> mutations were identified in seven kindreds .

In the sentence extracted from 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: Mutations were located in three different regions of the APC gene ( 1 ) at the 5 end spanning exons 4 and 5 , ( 2 ) within exon 9 , and ( 3 ) at the 3 distal end of the gene . ### Output Text:

Mutations were located in three different regions of the <span class="disease">APC</span> gene ( 1 ) at the 5 end spanning exons 4 and 5 , ( 2 ) within exon 9 , and ( 3 ) at the 3 distal end of the 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Variability in the number of colorectal adenomas was most apparent in individuals with mutations in region 1 , and upper - gastrointestinal manifestations were more severe in them . ### Output Text:

Variability in the number of <span class="disease">colorectal adenomas</span> was most apparent in individuals with mutations in region 1 , and upper - gastrointestinal manifestations were more severe in them .

In the sentence extracted from 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 individuals with mutations in either region 2 or region 3 , the average number of adenomas tended to be lower than those in individuals with mutations in region 1 , although age at diagnosis was similar . ### Output Text:

In individuals with mutations in either region 2 or region 3 , the average number of <span class="disease">adenomas</span> tended to be lower than those in individuals with mutations in region 1 , although age at diagnosis was similar .

In the sentence extracted from 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 all AAPC kindreds , a predominance of right - sided colorectal adenomas and rectal polyp sparing was observed . ### Output Text:

In all <span class="disease">AAPC</span> kindreds , a predominance of right - sided <span class="disease">colorectal adenomas</span> and <span class="disease">rectal polyp</span> sparing was observed .

In the sentence extracted from 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: No desmoid tumors were found in these kindreds . ### Output Text:

No <span class="disease">desmoid tumors</span> were found in these kindreds .

In the sentence extracted from 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: Our data suggest that , in AAPC families , the location of the APC mutation may partially predict specific phenotypic expression . ### Output Text:

Our data suggest that , in <span class="disease">AAPC</span> families , the location of the <span class="disease">APC</span> mutation may partially predict specific phenotypic expression .

In the sentence extracted from 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: This should help in the design of tailored clinical - management protocols in this subset of FAP patients . . ### Output Text:

This should help in the design of tailored clinical - management protocols in this subset of <span class="disease">FAP</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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Wilms ' tumor 1 and Dax - 1 modulate the orphan nuclear receptor SF - 1 in sex - specific gene expression . ### Output Text:

<span class="disease">Wilms ' tumor</span> 1 and Dax - 1 modulate the orphan nuclear receptor SF - 1 in sex - specific gene expression .

In the sentence extracted from 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: Products of steroidogenic factor 1 ( SF - 1 ) and Wilms tumor 1 ( WT1 ) genes are essential for mammalian gonadogenesis prior to sexual differentiation . ### Output Text:

Products of steroidogenic factor 1 ( SF - 1 ) and <span class="disease">Wilms tumor</span> 1 ( WT1 ) genes are essential for mammalian gonadogenesis prior to sexual differentiation .

In the sentence extracted from 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 males , SF - 1 participates in sexual development by regulating expression of the polypeptide hormone Mullerian inhibiting substance ( MIS ) . ### Output Text:

In males , SF - 1 participates in sexual development by regulating expression of the polypeptide hormone Mullerian inhibiting substance ( MIS ) .

In the sentence extracted from 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: Here , we show that WT1 - KTS isoforms associate and synergize with SF - 1 to promote MIS expression . ### Output Text:

Here , we show that WT1 - KTS isoforms associate and synergize with SF - 1 to promote MIS expression .

In the sentence extracted from 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 contrast , WT1 missense mutations , associated with male pseudohermaphroditism in Denys - Drash syndrome , fail to synergize with SF - 1 . ### Output Text:

In contrast , WT1 missense mutations , associated with <span class="disease">male pseudohermaphroditism</span> in <span class="disease">Denys - Drash syndrome</span> , fail to synergize with SF - 1 .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Additionally , the X - linked , candidate dosage - sensitive sex - reversal gene , Dax - 1 , antagonizes synergy between SF - 1 and WT1 , most likely through a direct interaction with SF - 1 . ### Output Text:

Additionally , the X - linked , candidate dosage - sensitive sex - reversal gene , Dax - 1 , antagonizes synergy between SF - 1 and WT1 , most likely through a direct interaction with SF - 1 .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: We propose that WT1 and Dax - 1 functionally oppose each other in testis development by modulating SF - 1 - mediated transactivation . . ### Output Text:

We propose that WT1 and Dax - 1 functionally oppose each other in testis development by modulating SF - 1 - mediated transactivation . .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: A mouse model for Prader - Willi syndrome imprinting - centre mutations . ### Output Text:

A mouse model for <span class="disease">Prader - Willi syndrome</span> imprinting - centre mutations .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Imprinting in the 15q11 - q13 region involves an imprinting centre ( IC ) , mapping in part to the promoter and first exon of SNRPN . ### Output Text:

Imprinting in the 15q11 - q13 region involves an imprinting centre ( IC ) , mapping in part to the promoter and first exon of SNRPN .

In the sentence extracted from 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: Deletion of this IC abolishes local paternally derived gene expression and results in Prader - Willi syndrome ( PWS ) . ### Output Text:

Deletion of this IC abolishes local paternally derived gene expression and results in <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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: We have created two deletion mutations in mice to understand PWS and the mechanism of this IC . ### Output Text:

We have created two deletion mutations in mice to understand <span class="disease">PWS</span> and the mechanism of this IC .

In the sentence extracted from 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: Mice harbouring an intragenic deletion in Snrpn are phenotypically normal , suggesting that mutations of SNRPN are not sufficient to induce PWS . ### Output Text:

Mice harbouring an intragenic deletion in Snrpn are phenotypically normal , suggesting that mutations of SNRPN are not sufficient to induce <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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Mice with a larger deletion involving both Snrpn and the putative PWS - IC lack expression of the imprinted genes Zfp127 ( mouse homologue of ZNF127 ) , Ndn and Ipw , and manifest several phenotypes common to PWS infants . ### Output Text:

Mice with a larger deletion involving both Snrpn and the putative PWS - IC lack expression of the imprinted genes Zfp127 ( mouse homologue of ZNF127 ) , Ndn and Ipw , and manifest several phenotypes common to <span class="disease">PWS</span> infants .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: These data demonstrate that both the position of the IC and its role in the coordinate expression of genes is conserved between mouse and human , and indicate that the mouse is a suitable model system in which to investigate the molecular mechanisms of imprinting in this region of the genome . . ### Output Text:

These data demonstrate that both the position of the IC and its role in the coordinate expression of genes is conserved between mouse and human , and indicate that the mouse is a suitable model system in which to investigate the molecular mechanisms of imprinting in this region of the genome . .

In the sentence extracted from 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: Mutations of the ATM gene detected in Japanese ataxia - telangiectasia patients : possible preponderance of the two founder mutations 4612del165 and 7883del5 . ### Output Text:

Mutations of the ATM gene detected in Japanese <span class="disease">ataxia - telangiectasia</span> patients : possible preponderance of the two founder mutations 4612del165 and 7883del5 .

In the sentence extracted from 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 ATM ( A - T , mutated ) gene on human chromosome 11q22 . ### Output Text:

The ATM ( A - T , mutated ) gene on human chromosome 11q22 .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 3 has recently been identified as the gene responsible for the human recessive disease ataxia - telangiectasia ( A - T ) . ### Output Text:

3 has recently been identified as the gene responsible for the human <span class="disease">recessive disease</span> <span class="disease">ataxia - telangiectasia</span> ( <span class="disease">A - T</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: In order to define the types of disease - causing ATM mutations in Japanese A - T patients as well as to look for possible mutational hotspots , reverse - transcribed RNA derived from ten patients belonging to eight unrelated Japanese A - T families was analyzed for mutations by the restriction endonuclease fingerprinting method . ### Output Text:

In order to define the types of disease - causing ATM mutations in Japanese <span class="disease">A - T</span> patients as well as to look for possible mutational hotspots , reverse - transcribed RNA derived from ten patients belonging to eight unrelated Japanese <span class="disease">A - T</span> families was analyzed for mutations by the restriction endonuclease fingerprinting method .

In the sentence extracted from 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: As has been reported by others , mutations that lead to exon skipping or premature protein truncation were also predominant in our mutants . ### Output Text:

As has been reported by others , mutations that lead to exon skipping or premature protein truncation were also predominant in our mutants .

In the sentence extracted from 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: Six different mutations were identified on 12 of the 16 alleles examined . ### Output Text:

Six different mutations were identified on 12 of the 16 alleles examined .

In the sentence extracted from 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: Four were deletions involving a loss of a single exon exon 7 , exon 16 , exon 33 or exon 35 . ### Output Text:

Four were deletions involving a loss of a single exon exon 7 , exon 16 , exon 33 or exon 35 .

In the sentence extracted from 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 others were minute deletions , 4649delA in exon 33 and 7883del5 in exon 55 . ### Output Text:

The others were minute deletions , 4649delA in exon 33 and 7883del5 in exon 55 .

In the sentence extracted from 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 mutations 4612del165 and 7883del5 were found in more than two unrelated families ; 44 % ( 7 of 16 ) of the mutant alleles had one of the two mutations . ### Output Text:

The mutations 4612del165 and 7883del5 were found in more than two unrelated families ; 44 % ( 7 of 16 ) of the mutant alleles had one of the two mutations .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The 4612del165 mutations in three different families were all ascribed to the same T - - > A substitution at the splice donor site in intron 33 . ### Output Text:

The 4612del165 mutations in three different families were all ascribed to the same T - - > A substitution at the splice donor site in intron 33 .

In the sentence extracted from 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: Microsatellite genotyping around the ATM locus also indicated that a common haplotype was shared by the mutant alleles in both mutations . ### Output Text:

Microsatellite genotyping around the ATM locus also indicated that a common haplotype was shared by the mutant alleles in both mutations .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: This suggests that these two founder mutations may be predominant among Japanese ATM mutant alleles . ### Output Text:

This suggests that these two founder mutations may be predominant among Japanese ATM mutant 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: W474C amino acid substitution affects early processing of the alpha - subunit of beta - hexosaminidase A and is associated with subacute G ( M2 ) gangliosidosis . ### Output Text:

W474C amino acid substitution affects early processing of the alpha - subunit of beta - hexosaminidase A and is associated with subacute <span class="disease">G ( M2 ) gangliosidosis</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: Mutations in the HEXA gene , encoding the alpha - subunit of beta - hexosaminidase A ( Hex A ) , that abolish Hex A enzyme activity cause Tay - Sachs disease ( TSD ) , the fatal infantile form of G ( M2 ) gangliosidosis , Type 1 . ### Output Text:

Mutations in the HEXA gene , encoding the alpha - subunit of beta - hexosaminidase A ( Hex A ) , that abolish Hex A enzyme activity cause <span class="disease">Tay - Sachs disease</span> ( <span class="disease">TSD</span> ) , the fatal <span class="disease">infantile form of G ( M2 ) gangliosidosis , Type 1</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: Less severe , subacute ( juvenile - onset ) and chronic ( adult - onset ) variants are characterized by a broad spectrum of clinical manifestations and are associated with residual levels of Hex A enzyme activity . ### Output Text:

Less severe , subacute ( juvenile - onset ) and chronic ( adult - onset ) variants are characterized by a broad spectrum of clinical manifestations and are associated with residual levels of Hex A 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: We identified a 1422 G - - > C ( amino acid W474C ) substitution in the first position of exon 13 of HEXA of a non - Jewish proband who manifested a subacute variant of G ( M2 ) gangliosidosis . ### Output Text:

We identified a 1422 G - - > C ( amino acid W474C ) substitution in the first position of exon 13 of HEXA of a non - Jewish proband who manifested a subacute variant of <span class="disease">G ( M2 ) gangliosidosis</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: On the second maternally inherited allele , we identified the common infantile disease - causing 4 - bp insertion , + TATC 1278 , in exon 11 . ### Output Text:

On the second maternally inherited allele , we identified the common infantile disease - causing 4 - bp insertion , + TATC 1278 , in exon 11 .

In the sentence extracted from 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: Pulse - chase analysis using proband fibroblasts revealed that the W474C - containing alpha - subunit precursor was normally synthesized , but not phosphorylated or secreted , and the mature lysosomal alpha - subunit was not detected . ### Output Text:

Pulse - chase analysis using proband fibroblasts revealed that the W474C - containing alpha - subunit precursor was normally synthesized , but not phosphorylated or secreted , and the mature lysosomal alpha - subunit was not detected .

In the sentence extracted from 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: When the W474C - containing alpha - subunit was transiently co - expressed with the beta - subunit to produce Hex A ( alphabeta ) in COS - 7 cells , the mature alpha - subunit was present , but its level was much lower than that from normal alpha - subunit transfections , although higher than in those cells transfected with an alpha - subunit associated with infantile TSD . ### Output Text:

When the W474C - containing alpha - subunit was transiently co - expressed with the beta - subunit to produce Hex A ( alphabeta ) in COS - 7 cells , the mature alpha - subunit was present , but its level was much lower than that from normal alpha - subunit transfections , although higher than in those cells transfected with an alpha - subunit associated with infantile <span class="disease">TSD</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: Furthermore , the precursor level of the W474C alpha - subunit was found to accumulate in comparison to the normal alpha - subunit precursor levels . ### Output Text:

Furthermore , the precursor level of the W474C alpha - subunit was found to accumulate in comparison to the normal alpha - subunit precursor levels .

In the sentence extracted from 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 conclude that the 1422 G - - > C mutation is the cause of Hex A enzyme deficiency in the proband . ### Output Text:

We conclude that the 1422 G - - > C mutation is the cause of <span class="disease">Hex A enzyme deficiency</span> in the proband .

In the sentence extracted from 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 resulting W474C substitution clearly interferes with alpha - subunit processing , but because the base substitution falls at the first position of exon 13 , aberrant splicing may also contribute to Hex A deficiency in this proband . . ### Output Text:

The resulting W474C substitution clearly interferes with alpha - subunit processing , but because the base substitution falls at the first position of exon 13 , aberrant splicing may also contribute to <span class="disease">Hex A deficiency</span> in this proband . .

In the sentence extracted from 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: Two frequent missense mutations in Pendred syndrome . ### Output Text:

Two frequent missense mutations in <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: Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and goiter . ### Output Text:

<span class="disease">Pendred syndrome</span> is an <span class="disease">autosomal recessive disorder</span> characterized by early childhood <span class="disease">deafness</span> and <span class="disease">goiter</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: A century after its recognition as a syndrome by Vaughan Pendred , the disease gene ( PDS ) was mapped to chromosome 7q22 - q31 . ### Output Text:

A century after its recognition as a syndrome by Vaughan Pendred , the disease gene ( PDS ) was mapped to chromosome 7q22 - q31 .

In the sentence extracted from 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: 1 and , recently , found to encode a putative sulfate transporter . ### Output Text:

1 and , recently , found to encode a putative sulfate transporter .

In the sentence extracted from 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 performed mutation analysis of the PDS gene in patients from 14 Pendred families originating from seven countries and identified all mutations . ### Output Text:

We performed mutation analysis of the <span class="disease">PDS</span> gene in patients from 14 <span class="disease">Pendred</span> families originating from seven countries and identified all mutations .

In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The mutations include three single base deletions , one splice site mutation and 10 missense mutations . ### Output Text:

The mutations include three single base deletions , one splice site mutation and 10 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: One missense mutation ( L236P ) was found in a homozygous state in two consanguineous families and in a heterozygous state in five additional non - consanguineous families . ### Output Text:

One missense mutation ( L236P ) was found in a homozygous state in two consanguineous families and in a heterozygous state in five additional non - consanguineous 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Another missense mutation ( T416P ) was found in a homozygous state in one family and in a heterozygous state in four families . ### Output Text:

Another missense mutation ( T416P ) was found in a homozygous state in one family and in a heterozygous state in four families .