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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: Cytotoxic T lymphocyte - associated antigen 4 ( CTLA - 4 , also known as CD152 ) has been shown to play a major role in the regulation of T cell activation .
### Output Text: | Cytotoxic T lymphocyte - associated antigen 4 ( CTLA - 4 , also known as CD152 ) has been shown to play a major role in the regulation of T cell activation . |
In the sentence extracted from 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: Its membrane expression is highly regulated by endocytosis and trafficking through the secretory lysosome pathway .
### Output Text: | Its membrane expression is highly regulated by endocytosis and trafficking through the secretory lysosome pathway . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Chediak - Higashi syndrome ( CHS ) is an inherited disorder caused by mutations in the lysosomal trafficking regulator gene , LYST .
### Output Text: | <span class="disease">Chediak - Higashi syndrome</span> ( <span class="disease">CHS</span> ) is an <span class="disease">inherited disorder</span> caused by mutations in the lysosomal trafficking regulator gene , LYST . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: It results in defective membrane targeting of the proteins present in secretory lysosomes , and it is associated with a variety of features , including a lymphoproliferative syndrome with hemophagocytosis .
### Output Text: | It results in defective membrane targeting of the proteins present in secretory lysosomes , and it is associated with a variety of features , including a <span class="disease">lymphoproliferative syndrome</span> with <span class="disease">hemophagocytosis</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 murine equivalent of CHS , beige mice , present similar characteristics but do not develop the lymphoproliferative syndrome .
### Output Text: | The murine equivalent of <span class="disease">CHS</span> , beige mice , present similar characteristics but do not develop the <span class="disease">lymphoproliferative 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: We show herein that CTLA - 4 is present in enlarged , abnormal vesicles in CHS T cells and is not properly expressed at the cell surface after T cell activation , whereas its surface expression is not impaired .
### Output Text: | We show herein that CTLA - 4 is present in enlarged , abnormal vesicles in <span class="disease">CHS</span> T cells and is not properly expressed at the cell surface after T cell activation , whereas its surface expression is not impaired . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: It is therefore proposed that the defective surface expression of CTLA - 4 by CHS T cells is involved in the generation of lymphoproliferative disease .
### Output Text: | It is therefore proposed that the defective surface expression of CTLA - 4 by <span class="disease">CHS</span> T cells is involved in the generation of <span class="disease">lymphoproliferative 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: This observation may provide insight into the role of CTLA - 4 in humans . .
### Output Text: | This observation may provide insight into the role of CTLA - 4 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: Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus - Merzbacher Disease : duplications , the major cause of the disease , originate more frequently in male germ cells , but point mutations do not .
### Output Text: | Proteolipoprotein gene analysis in 82 patients with sporadic <span class="disease">Pelizaeus - Merzbacher Disease</span> : duplications , the major cause of the disease , originate more frequently in male germ cells , but point mutations do not . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The Clinical European Network on Brain Dysmyelinating Disease .
### Output Text: | The Clinical European Network on <span class="disease">Brain Dysmyelinating 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: Pelizaeus - Merzbacher Disease ( PMD ) is an X - linked developmental defect of myelination affecting the central nervous system and segregating with the proteolipoprotein ( PLP ) locus .
### Output Text: | <span class="disease">Pelizaeus - Merzbacher Disease</span> ( <span class="disease">PMD</span> ) is an <span class="disease">X - linked developmental defect of myelination</span> affecting the central nervous system and segregating with the proteolipoprotein ( PLP ) 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Investigating 82 strictly selected sporadic cases of PMD , we found PLP mutations in 77 % ; complete PLP - gene duplications were the most frequent abnormality ( 62 % ) , whereas point mutations in coding or splice - site regions of the gene were involved less frequently ( 38 % ) .
### Output Text: | Investigating 82 strictly selected sporadic cases of <span class="disease">PMD</span> , we found PLP mutations in 77 % ; complete PLP - gene duplications were the most frequent abnormality ( 62 % ) , whereas point mutations in coding or splice - site regions of the gene were involved less frequently ( 38 % ) . |
In the sentence extracted from 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 analyzed the maternal status of 56 cases to determine the origin of both types of PLP mutation , since this is relevant to genetic counseling .
### Output Text: | We analyzed the maternal status of 56 cases to determine the origin of both types of PLP mutation , since this is relevant to genetic counseling . |
In the sentence extracted from 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 22 point mutations , 68 % of mothers were heterozygous for the mutation , a value identical to the two - thirds of carrier mothers that would be expected if there were an equal mutation rate in male and female germ cells .
### Output Text: | In the 22 point mutations , 68 % of mothers were heterozygous for the mutation , a value identical to the two - thirds of carrier mothers that would be expected if there were an equal mutation rate in male and female germ cells . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: In sharp contrast , among the 34 duplicated cases , 91 % of mothers were carriers , a value significantly ( chi2 = 9 . 20 , P < . 01 ) in favor of a male bias , with an estimation of the male / female mutation frequency ( k ) of 9 .
### Output Text: | In sharp contrast , among the 34 duplicated cases , 91 % of mothers were carriers , a value significantly ( chi2 = 9 . 20 , P < . 01 ) in favor of a male bias , with an estimation of the male / female mutation frequency ( k ) of 9 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: 3 3 .
### Output Text: | 3 3 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Moreover , we observed the occurrence of de novo mutations between parental and grandparental generations in 17 three - generation families , which allowed a direct estimation of the k value ( k = 11 ) .
### Output Text: | Moreover , we observed the occurrence of de novo mutations between parental and grandparental generations in 17 three - generation families , which allowed a direct estimation of the k value ( k = 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: Again , a significant male mutation imbalance was observed only for the duplications .
### Output Text: | Again , a significant male mutation imbalance was observed only for the duplications . |
In the sentence extracted from biomedical literature, identify all 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: Chromosome breakage in the Prader - Willi and Angelman syndromes involves recombination between large , transcribed repeats at proximal and distal breakpoints .
### Output Text: | Chromosome breakage in the <span class="disease">Prader - Willi and Angelman syndromes</span> involves recombination between large , transcribed repeats at proximal and distal breakpoints . |
In the sentence extracted from biomedical literature, identify all 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: Prader - Willi syndrome ( PWS ) and Angelman syndrome ( AS ) are distinct neurobehavioral disorders that most often arise from a 4 - Mb deletion of chromosome 15q11 - q13 during paternal or maternal gametogenesis , respectively .
### Output Text: | <span class="disease">Prader - Willi syndrome</span> ( <span class="disease">PWS</span> ) and <span class="disease">Angelman syndrome</span> ( <span class="disease">AS</span> ) are distinct <span class="disease">neurobehavioral disorders</span> that most often arise from a 4 - Mb deletion of chromosome 15q11 - q13 during paternal or maternal gametogenesis , respectively . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: At a de novo frequency of approximately .
### Output Text: | At a de novo frequency of approximately . |
In the sentence extracted from biomedical literature, identify all 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: 67 - 1 / 10 , 000 births , these deletions represent a common structural chromosome change in the human genome .
### Output Text: | 67 - 1 / 10 , 000 births , these deletions represent a common structural chromosome change in the human 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.
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### Input Text: To elucidate the mechanism underlying these events , we characterized the regions that contain two proximal breakpoint clusters and a distal cluster .
### Output Text: | To elucidate the mechanism underlying these events , we characterized the regions that contain two proximal breakpoint clusters and a distal cluster . |
In the sentence extracted from biomedical literature, identify all 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: Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions .
### Output Text: | Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions . |
In the sentence extracted from biomedical literature, identify all 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: Analyses of rodent - human somatic - cell hybrids , YAC contigs , and FISH of normal or rearranged chromosomes 15 identified duplicated sequences ( the END repeats ) at or near the breakpoints .
### Output Text: | Analyses of rodent - human somatic - cell hybrids , YAC contigs , and FISH of normal or rearranged chromosomes 15 identified duplicated sequences ( the END repeats ) at or near the breakpoints . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: The END - repeat units are derived from large genomic duplications of a novel gene ( HERC2 ) , many copies of which are transcriptionally active in germline tissues .
### Output Text: | The END - repeat units are derived from large genomic duplications of a novel gene ( HERC2 ) , many copies of which are transcriptionally active in germline tissues . |
In the sentence extracted from 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 of five PWS / AS patients analyzed to date has an identifiable , rearranged HERC2 transcript derived from the deletion event .
### Output Text: | One of five <span class="disease">PWS</span> / <span class="disease">AS</span> patients analyzed to date has an identifiable , rearranged HERC2 transcript derived from the deletion event . |
In the sentence extracted from 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 postulate that the END repeats flanking 15q11 - q13 mediate homologous recombination resulting in deletion .
### Output Text: | We postulate that the END repeats flanking 15q11 - q13 mediate homologous recombination resulting in 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: Furthermore , we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process .
### Output Text: | Furthermore , we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process . |
In the sentence extracted from biomedical literature, identify all 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: Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11 . 2 - 11 . 1 .
### Output Text: | Linkage analysis in a large Brazilian family with <span class="disease">van der Woude syndrome</span> suggests the existence of a susceptibility locus for <span class="disease">cleft palate</span> at 17p11 . 2 - 11 . 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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Use <span class="disease"> to denote a disease.
### Input Text: van der Woude syndrome ( VWS ) , which has been mapped to 1q32 - 41 , is characterized by pits and / or sinuses of the lower lip , cleft lip / palate ( CL / P ) , cleft palate ( CP ) , bifid uvula , and hypodontia ( H ) .
### Output Text: | <span class="disease">van der Woude syndrome</span> ( <span class="disease">VWS</span> ) , which has been mapped to 1q32 - 41 , is characterized by <span class="disease">pits and / or sinuses of the lower lip</span> , <span class="disease">cleft lip / palate</span> ( <span class="disease">CL / P</span> ) , <span class="disease">cleft palate</span> ( <span class="disease">CP</span> ) , <span class="disease">bifid uvula</span> , and <span class="disease">hypodontia</span> ( <span class="disease">H</span> ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: The expression of VWS , which has incomplete penetrance , is highly variable .
### Output Text: | The expression of <span class="disease">VWS</span> , which has incomplete penetrance , is highly variable . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Both the occurrence of CL / P and CP within the same genealogy and a recurrence risk < 40 % for CP among descendants with VWS have suggested that the development of clefts in this syndrome is influenced by modifying genes at other loci .
### Output Text: | Both the occurrence of <span class="disease">CL / P</span> and <span class="disease">CP</span> within the same genealogy and a recurrence risk < 40 % for <span class="disease">CP</span> among descendants with <span class="disease">VWS</span> have suggested that the development of <span class="disease">clefts</span> in this syndrome is influenced by modifying genes at other loci . |
In the sentence extracted from biomedical literature, identify all 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 this hypothesis , we have conducted linkage analysis in a large Brazilian kindred with VWS , considering as affected the individuals with CP , regardless of whether it is associated with other clinical signs of VWS .
### Output Text: | To test this hypothesis , we have conducted linkage analysis in a large Brazilian kindred with <span class="disease">VWS</span> , considering as affected the individuals with <span class="disease">CP</span> , regardless of whether it is associated with other clinical signs of <span class="disease">VWS</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Our results suggest that a gene at 17p11 .
### Output Text: | Our results suggest that a gene at 17p11 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 2 - 11 2 - 11 .
### Output Text: | 2 - 11 2 - 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.
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### Input Text: 1 , together with the VWS gene at 1p32 - 41 , enhances the probability of CP in an individual carrying the two at - risk genes .
### Output Text: | 1 , together with the <span class="disease">VWS</span> gene at 1p32 - 41 , enhances the probability of <span class="disease">CP</span> in an individual carrying the two at - risk 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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Use <span class="disease"> to denote a disease.
### Input Text: If this hypothesis is confirmed in other VWS pedigrees , it will represent one of the first examples of a gene , mapped through linkage analysis , which modifies the expression of a major gene .
### Output Text: | If this hypothesis is confirmed in other <span class="disease">VWS</span> pedigrees , it will represent one of the first examples of a gene , mapped through linkage analysis , which modifies the expression of a major 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: New mutations , polymorphisms , and rare variants in the ATM gene detected by a novel SSCP strategy .
### Output Text: | New mutations , polymorphisms , and rare variants in the ATM gene detected by a novel SSCP strategy . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: The gene for ataxia - telangiectasia , ATM , spans about 150 kb of genomic DNA .
### Output Text: | The gene for <span class="disease">ataxia - telangiectasia</span> , ATM , spans about 150 kb of genomic 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.
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### Input Text: ATM mutations are found along the entire gene , with no evidence of a mutational hot spot .
### Output Text: | ATM mutations are found along the entire gene , with no evidence of a mutational hot spot . |
In the sentence extracted from biomedical literature, identify all 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: Using DNA as the starting material , we screened the ATM gene in 92 A - T patients , using an optimized single - strand conformation polymorphism ( SSCP ) technique that detected all previously known mutations in the polymerase chain reaction ( PCR ) segments being analyzed .
### Output Text: | Using DNA as the starting material , we screened the ATM gene in 92 <span class="disease">A - T</span> patients , using an optimized single - strand conformation polymorphism ( SSCP ) technique that detected all previously known mutations in the polymerase chain reaction ( PCR ) segments being 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.
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### Input Text: To expedite screening , we sequentially loaded the SSCP gels with three different sets of PCR products that were pretested to avoid overlapping patterns .
### Output Text: | To expedite screening , we sequentially loaded the SSCP gels with three different sets of PCR products that were pretested to avoid overlapping patterns . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Many of the DNA changes we detected were intragenic polymorphisms .
### Output Text: | Many of the DNA changes we detected were intragenic polymorphisms . |
In the sentence extracted from biomedical literature, identify all 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: Of an expected 177 unknown mutations , we detected approximately 70 % , mostly protein truncating mutations ( that would have been detectable by protein truncation testing if RNA starting material had been available ) .
### Output Text: | Of an expected 177 unknown mutations , we detected approximately 70 % , mostly protein truncating mutations ( that would have been detectable by protein truncation testing if RNA starting material had been available ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Mutations have now been defined for every exon of the ATM gene .
### Output Text: | Mutations have now been defined for every exon of the ATM 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: Herein , we present 35 new mutations and 34 new intragenic polymorphisms or rare variants within the ATM gene .
### Output Text: | Herein , we present 35 new mutations and 34 new intragenic polymorphisms or rare variants within the ATM 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: This is the most comprehensive compilation of ATM polymorphisms assembled to date .
### Output Text: | This is the most comprehensive compilation of ATM polymorphisms assembled to date . |
In the sentence extracted from biomedical literature, identify all 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: Defining polymorphic sites as well as mutations in the ATM gene will be of great importance in designing automated methods for detecting mutations . .
### Output Text: | Defining polymorphic sites as well as mutations in the ATM gene will be of great importance in designing automated methods for detecting mutations . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: A novel frameshift mutation in the McLeod syndrome gene in a Japanese family .
### Output Text: | A novel frameshift mutation in the <span class="disease">McLeod syndrome</span> gene in a Japanese 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: We report a novel mutation in the XK gene ( XK ) in a Japanese patient with McLeod syndrome .
### Output Text: | We report a novel mutation in the XK gene ( XK ) in a Japanese patient with <span class="disease">McLeod syndrome</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: A 50 - year - old man showed progressive muscular atrophy , choreic movement , elevated level of serum creatinine kinase , and acanthocytosis .
### Output Text: | A 50 - year - old man showed progressive <span class="disease">muscular atrophy</span> , <span class="disease">choreic movement</span> , elevated level of serum creatinine kinase , and <span class="disease">acanthocytosis</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 expression level of all the Kell antigens in erythrocyte was decreased and molecular analysis revealed a single - base ( T ) deletion at the nucleotide position 1095 in XK .
### Output Text: | The expression level of all the Kell antigens in erythrocyte was decreased and molecular analysis revealed a single - base ( T ) deletion at the nucleotide position 1095 in XK . |
In the sentence extracted from biomedical literature, identify all 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 deletion caused a frameshift in translation , leading to a premature stop codon at the amino acid position 408 .
### Output Text: | This deletion caused a frameshift in translation , leading to a premature stop codon at the amino acid position 408 . |
In the sentence extracted from biomedical literature, identify all 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 this single - base deletion causes defective Kx protein , which is responsible for the McLeod phenotype in this patient . .
### Output Text: | We conclude this single - base deletion causes defective Kx protein , which is responsible for the <span class="disease">McLeod</span> phenotype in this patient . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Association of BRCA1 with the hRad50 - hMre11 - p95 complex and the DNA damage response .
### Output Text: | Association of BRCA1 with the hRad50 - hMre11 - p95 complex and the DNA damage response . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: BRCA1 encodes a tumor suppressor that is mutated in familial breast and ovarian cancers .
### Output Text: | BRCA1 encodes a <span class="disease">tumor</span> suppressor that is mutated in <span class="disease">familial breast and ovarian cancers</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Here , it is shown that BRCA1 interacts in vitro and in vivo with hRad50 , which forms a complex with hMre11 and p95 / nibrin .
### Output Text: | Here , it is shown that BRCA1 interacts in vitro and in vivo with hRad50 , which forms a complex with hMre11 and p95 / nibrin . |
In the sentence extracted from biomedical literature, identify all 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: Upon irradiation , BRCA1 was detected in discrete foci in the nucleus , which colocalize with hRad50 .
### Output Text: | Upon irradiation , BRCA1 was detected in discrete foci in the nucleus , which colocalize with hRad50 . |
In the sentence extracted from biomedical literature, identify all 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: Formation of irradiation - induced foci positive for BRCA1 , hRad50 , hMre11 , or p95 was dramatically reduced in HCC / 1937 breast cancer cells carrying a homozygous mutation in BRCA1 but was restored by transfection of wild - type BRCA1 .
### Output Text: | Formation of irradiation - induced foci positive for BRCA1 , hRad50 , hMre11 , or p95 was dramatically reduced in HCC / 1937 <span class="disease">breast cancer</span> cells carrying a homozygous mutation in BRCA1 but was restored by transfection of wild - type BRCA1 . |
In the sentence extracted from biomedical literature, identify all 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: Ectopic expression of wild - type , but not mutated , BRCA1 in these cells rendered them less sensitive to the DNA damage agent , methyl methanesulfonate .
### Output Text: | Ectopic expression of wild - type , but not mutated , BRCA1 in these cells rendered them less sensitive to the DNA damage agent , methyl methanesulfonate . |
In the sentence extracted from 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 suggest that BRCA1 is important for the cellular responses to DNA damage that are mediated by the hRad50 - hMre11 - p95 complex . .
### Output Text: | These data suggest that BRCA1 is important for the cellular responses to DNA damage that are mediated by the hRad50 - hMre11 - p95 complex . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Relationship among genotype , biochemical phenotype , and cognitive performance in females with phenylalanine hydroxylase deficiency : report from the Maternal Phenylketonuria Collaborative Study .
### Output Text: | Relationship among genotype , biochemical phenotype , and cognitive performance in females with <span class="disease">phenylalanine hydroxylase deficiency</span> : report from the <span class="disease">Maternal Phenylketonuria</span> Collaborative 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: OBJECTIVE To examine the relationship of phenylalanine hydroxylase ( PAH ) genotypes to biochemical phenotype and cognitive development in maternal phenylketonuria ( PKU ) .
### Output Text: | OBJECTIVE To examine the relationship of phenylalanine hydroxylase ( PAH ) genotypes to biochemical phenotype and cognitive development in <span class="disease">maternal phenylketonuria</span> ( <span class="disease">PKU</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: METHODOLOGY PAH gene mutations were examined in 222 hyperphenylalaninemic females enrolled in the Maternal PKU Collaborative Study ( MPKUCS ) .
### Output Text: | METHODOLOGY PAH gene mutations were examined in 222 <span class="disease">hyperphenylalaninemic</span> females enrolled in the <span class="disease">Maternal PKU</span> Collaborative Study ( MPKUCS ) . |
In the sentence extracted from biomedical literature, identify all 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 total of 84 different mutations were detected , and complete genotype was obtained in 199 individuals .
### Output Text: | A total of 84 different mutations were detected , and complete genotype was obtained in 199 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.
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### Input Text: Based on previous knowledge about mutation - phenotype associations , 78 of the mutations could be assigned to one of four classes of severity ( severe PKU , moderate PKU , mild PKU , and mild hyperphenylalaninemia [ MHP ] ) .
### Output Text: | Based on previous knowledge about mutation - phenotype associations , 78 of the mutations could be assigned to one of four classes of severity ( severe <span class="disease">PKU</span> , moderate <span class="disease">PKU</span> , mild <span class="disease">PKU</span> , and <span class="disease">mild hyperphenylalaninemia</span> [ <span class="disease">MHP</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: Then , 189 MPKUCS subjects were grouped according to the various combinations of mutation classifications .
### Output Text: | Then , 189 MPKUCS subjects were grouped according to the various combinations of mutation classifications . |
In the sentence extracted from biomedical literature, identify all 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 sample sizes were large enough for statistical testing in four groups with at least one mutation that completely abolishes enzyme activity .
### Output Text: | The sample sizes were large enough for statistical testing in four groups with at least one mutation that completely abolishes enzyme activity . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: These patients are considered functionally hemizygous .
### Output Text: | These patients are considered functionally hemizygous . |
In the sentence extracted from biomedical literature, identify all 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 biochemical phenotype predicted from the genotype in functionally hemizygous patients was related significantly to the assigned phenylalanine level .
### Output Text: | RESULTS The biochemical phenotype predicted from the genotype in functionally hemizygous patients was related significantly to the assigned phenylalanine level . |
In the sentence extracted from biomedical literature, identify all 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: Cognitive performance ( IQ ) was also significantly related to genotype .
### Output Text: | Cognitive performance ( IQ ) was also significantly related to genotype . |
In the sentence extracted from biomedical literature, identify all 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 IQ of PAH - deficient mothers with a severe PKU mutation in combination with a MHP mutation or a mild PKU mutation was 99 and 96 , respectively , whereas the IQ of PKU mothers with two severe PKU mutations or with one severe and one moderate PKU mutation was 83 and 84 , respectively .
### Output Text: | The IQ of <span class="disease">PAH - deficient</span> mothers with a severe <span class="disease">PKU</span> mutation in combination with a <span class="disease">MHP</span> mutation or a mild <span class="disease">PKU</span> mutation was 99 and 96 , respectively , whereas the IQ of <span class="disease">PKU</span> mothers with two severe <span class="disease">PKU</span> mutations or with one severe and one moderate <span class="disease">PKU</span> mutation was 83 and 84 , respectively . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Of the patients with PKU , 92 % had been treated during childhood .
### Output Text: | Of the patients with <span class="disease">PKU</span> , 92 % had been treated during childhood . |
In the sentence extracted from biomedical literature, identify all 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: Those who were untreated or treated late had lower than average IQ scores for their group of mutation combinations .
### Output Text: | Those who were untreated or treated late had lower than average IQ scores for their group of mutation combinations . |
In the sentence extracted from biomedical literature, identify all 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: Females with moderate or mild PKU who were treated early and treated for > 6 years showed IQ scores 10 points above average for their group .
### Output Text: | Females with moderate or mild <span class="disease">PKU</span> who were treated early and treated for > 6 years showed IQ scores 10 points above average for their 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: CONCLUSIONS The reproductive outcome in maternal phenylketonuria is dependent on prenatal metabolic control and postnatal environmental circumstances .
### Output Text: | CONCLUSIONS The reproductive outcome in <span class="disease">maternal phenylketonuria</span> is dependent on prenatal metabolic control and postnatal environmental circumstances . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Both factors depend on the intellectual resources of the mother with PKU .
### Output Text: | Both factors depend on the intellectual resources of the mother with <span class="disease">PKU</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 significant relationship among genotype , biochemical phenotype , and cognitive performance observed in the present study is of importance for the development of an optimal strategy for future treatment of females with PKU who plan pregnancy . .
### Output Text: | The significant relationship among genotype , biochemical phenotype , and cognitive performance observed in the present study is of importance for the development of an optimal strategy for future treatment of females with <span class="disease">PKU</span> who plan pregnancy . . |
In the sentence extracted from biomedical literature, identify all 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: Spinal xanthomatosis : a variant of cerebrotendinous xanthomatosis .
### Output Text: | <span class="disease">Spinal xanthomatosis</span> : a variant of <span class="disease">cerebrotendinous xanthomatosis</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 describe seven Dutch patients from six families with a slowly progressive , mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis ( CTX ) .
### Output Text: | We describe seven Dutch patients from six families with a slowly progressive , mainly <span class="disease">spinal cord syndrome</span> that remained for many years the sole expression of <span class="disease">cerebrotendinous xanthomatosis</span> ( <span class="disease">CTX</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: MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord .
### Output Text: | MRI demonstrated <span class="disease">white matter abnormalities</span> in the lateral and dorsal columns of the spinal cord . |
In the sentence extracted from biomedical literature, identify all 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: Post - mortem examination of one of the patients showed extensive myelin loss in these columns .
### Output Text: | Post - mortem examination of one of the patients showed extensive myelin loss in these columns . |
In the sentence extracted from biomedical literature, identify all 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: An array of genotypes was found in these patients .
### Output Text: | An array of genotypes was found in these 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: We conclude that spinal xanthomatosis is a clinical and radiological separate entity of CTX that should be included in the differential diagnosis of chronic myelopathy . .
### Output Text: | We conclude that <span class="disease">spinal xanthomatosis</span> is a clinical and radiological separate entity of <span class="disease">CTX</span> that should be included in the differential diagnosis of <span class="disease">chronic myelopathy</span> . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: A transgene insertion creating a heritable chromosome deletion mouse model of Prader - Willi and angelman syndromes .
### Output Text: | A transgene insertion creating a heritable chromosome deletion mouse model of <span class="disease">Prader - Willi and angelman syndromes</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: Prader - Willi syndrome ( PWS ) and Angelman syndrome ( AS ) result from the loss of function of imprinted genes in human chromosome 15q11 - q13 .
### Output Text: | <span class="disease">Prader - Willi syndrome</span> ( <span class="disease">PWS</span> ) and <span class="disease">Angelman syndrome</span> ( <span class="disease">AS</span> ) result from the loss of function of imprinted genes in human chromosome 15q11 - q13 . |
In the sentence extracted from biomedical literature, identify all 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 central part of mouse chromosome 7 is homologous to human 15q11 - q13 , with conservation of both gene order and imprinted features .
### Output Text: | The central part of mouse chromosome 7 is homologous to human 15q11 - q13 , with conservation of both gene order and imprinted features . |
In the sentence extracted from biomedical literature, identify all 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 here the characterization of a transgene insertion ( Epstein - Barr virus Latent Membrane Protein 2A , LMP2A ) into mouse chromosome 7C , which has resulted in mouse models for PWS and AS dependent on the sex of the transmitting parent .
### Output Text: | We report here the characterization of a transgene insertion ( Epstein - Barr virus Latent Membrane Protein 2A , LMP2A ) into mouse chromosome 7C , which has resulted in mouse models for <span class="disease">PWS</span> and <span class="disease">AS</span> dependent on the sex of the transmitting parent . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Epigenotype ( allelic expression and DNA methylation ) and fluorescence in situ hybridization analyses indicate that the transgene - induced mutation has generated a complete deletion of the PWS / AS - homologous region but has not deleted flanking loci .
### Output Text: | Epigenotype ( allelic expression and DNA methylation ) and fluorescence in situ hybridization analyses indicate that the transgene - induced mutation has generated a complete deletion of the <span class="disease">PWS</span> / <span class="disease">AS</span> - homologous region but has not deleted flanking loci . |
In the sentence extracted from biomedical literature, identify all 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: Because the intact chromosome 7 , opposite the deleted homolog , maintains the correct imprint in somatic cells of PWS and AS mice and establishes the correct imprint in male and female germ cells of AS mice , homologous association and replication asynchrony are not part of the imprinting mechanism .
### Output Text: | Because the intact chromosome 7 , opposite the deleted homolog , maintains the correct imprint in somatic cells of <span class="disease">PWS</span> and <span class="disease">AS</span> mice and establishes the correct imprint in male and female germ cells of <span class="disease">AS</span> mice , homologous association and replication asynchrony are not part of the imprinting mechanism . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: This heritable - deletion mouse model will be particularly useful for the identification of the etiological genes and mechanisms , phenotypic basis , and investigation of therapeutic approaches for PWS . .
### Output Text: | This heritable - deletion mouse model will be particularly useful for the identification of the etiological genes and mechanisms , phenotypic basis , and investigation of therapeutic approaches for <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: Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32 - q41 markers further supports locus homogeneity of the disease trait .
### Output Text: | Linkage analysis of 5 novel <span class="disease">van der Woude syndrome</span> kindreds to 1q32 - q41 markers further supports locus homogeneity of the disease trait . |
In the sentence extracted from biomedical literature, identify all 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: van der Woude syndrome ( vWS , MIM 119300 ) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts ( lower - lip pits ) and clefts to the lip and / or palate .
### Output Text: | <span class="disease">van der Woude syndrome</span> ( <span class="disease">vWS</span> , MIM 119300 ) is a rare <span class="disease">autosomal dominant clefting condition</span> with cardinal features of <span class="disease">mucous cysts</span> ( <span class="disease">lower - lip pits</span> ) and <span class="disease">clefts to the lip and / or palate</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 vWS gene has been assigned to a locus in 1q32 - q41 by linkage analysis and physical mapping .
### Output Text: | The <span class="disease">vWS</span> gene has been assigned to a locus in 1q32 - q41 by linkage analysis and physical mapping . |
In the sentence extracted from biomedical literature, identify all 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 investigated 5 novel vWS families through probands attended for cleft lip and / or palate repair at the Department of Maxillofacial Surgery of Hopital Trousseau , Paris , in order to tentatively refine the genetic map of the vWS region in 1q32 - q41 and possibly identify unlinked pedigrees .
### Output Text: | We have investigated 5 novel <span class="disease">vWS</span> families through probands attended for <span class="disease">cleft lip and / or palate</span> repair at the Department of Maxillofacial Surgery of Hopital Trousseau , Paris , in order to tentatively refine the genetic map of the <span class="disease">vWS</span> region in 1q32 - q41 and possibly identify unlinked pedigrees . |
In the sentence extracted from biomedical literature, identify all 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: Linkage analysis was carried out to 6 microsatellite markers ( D1S249 , D1S425 , D1S491 , D1S205 , D1S414 , D1S425 ) , yielding a maximum cumulative LOD score of Z = 3 .
### Output Text: | Linkage analysis was carried out to 6 microsatellite markers ( D1S249 , D1S425 , D1S491 , D1S205 , D1S414 , D1S425 ) , yielding a maximum cumulative LOD score of Z = 3 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 27 at theta = 0 .
### Output Text: | 27 at theta = 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: 00 for D1S245 .
### Output Text: | 00 for D1S245 . |
In the sentence extracted from biomedical literature, identify all 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 innermost four markers were found to be tightly linked to one another , with no evidence for recombination .
### Output Text: | The innermost four markers were found to be tightly linked to one another , with no evidence for recombination . |