PubMed:1776638 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":85},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":86,"end":196},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":197,"end":311},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":312,"end":576},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":85},"obj":"Sentence"},{"id":"T2","span":{"begin":86,"end":196},"obj":"Sentence"},{"id":"T3","span":{"begin":197,"end":311},"obj":"Sentence"},{"id":"T4","span":{"begin":312,"end":576},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.\nWe described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":145,"end":163},"obj":"HP_0001249"},{"id":"T2","span":{"begin":169,"end":195},"obj":"HP_0001999"}],"text":"Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.\nWe described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":466,"end":489},"obj":"ORDO:733"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.\nWe described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":65,"end":68},"obj":"http://purl.obolibrary.org/obo/UBERON_0001460"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":274,"end":277},"obj":"http://purl.obolibrary.org/obo/UBERON_0001460"}],"text":"Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.\nWe described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":0,"end":16},"obj":"SpecificDisease:D005736"},{"id":"T2","span":{"begin":122,"end":138},"obj":"SpecificDisease:D005736"},{"id":"T3","span":{"begin":140,"end":142},"obj":"SpecificDisease:D005736"},{"id":"T4","span":{"begin":145,"end":163},"obj":"DiseaseClass:D008607"},{"id":"T5","span":{"begin":169,"end":195},"obj":"DiseaseClass:D019465"},{"id":"T6","span":{"begin":395,"end":421},"obj":"SpecificDisease:D011125"},{"id":"T7","span":{"begin":460,"end":462},"obj":"SpecificDisease:D005736"},{"id":"T8","span":{"begin":466,"end":489},"obj":"SpecificDisease:D011125"},{"id":"T9","span":{"begin":491,"end":494},"obj":"SpecificDisease:D011125"}],"text":"Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.\nWe described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T173","span":{"begin":0,"end":16},"obj":"SpecificDisease"},{"id":"T174","span":{"begin":122,"end":138},"obj":"SpecificDisease"},{"id":"T175","span":{"begin":140,"end":142},"obj":"SpecificDisease"},{"id":"T176","span":{"begin":145,"end":163},"obj":"DiseaseClass"},{"id":"T177","span":{"begin":169,"end":195},"obj":"DiseaseClass"},{"id":"T178","span":{"begin":395,"end":421},"obj":"SpecificDisease"},{"id":"T179","span":{"begin":460,"end":462},"obj":"SpecificDisease"},{"id":"T180","span":{"begin":466,"end":489},"obj":"SpecificDisease"},{"id":"T181","span":{"begin":491,"end":494},"obj":"SpecificDisease"}],"attributes":[{"id":"A173","pred":"database_id","subj":"T173","obj":"D005736"},{"id":"A174","pred":"database_id","subj":"T174","obj":"D005736"},{"id":"A175","pred":"database_id","subj":"T175","obj":"D005736"},{"id":"A176","pred":"database_id","subj":"T176","obj":"D008607"},{"id":"A177","pred":"database_id","subj":"T177","obj":"D019465"},{"id":"A178","pred":"database_id","subj":"T178","obj":"D011125"},{"id":"A179","pred":"database_id","subj":"T179","obj":"D005736"},{"id":"A180","pred":"database_id","subj":"T180","obj":"D011125"},{"id":"A181","pred":"database_id","subj":"T181","obj":"D011125"}],"text":"Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.\nWe described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T173","span":{"begin":0,"end":16},"obj":"SpecificDisease"},{"id":"T174","span":{"begin":122,"end":138},"obj":"SpecificDisease"},{"id":"T175","span":{"begin":140,"end":142},"obj":"SpecificDisease"},{"id":"T176","span":{"begin":145,"end":163},"obj":"DiseaseClass"},{"id":"T177","span":{"begin":169,"end":195},"obj":"DiseaseClass"},{"id":"T178","span":{"begin":395,"end":421},"obj":"SpecificDisease"},{"id":"T179","span":{"begin":460,"end":462},"obj":"SpecificDisease"},{"id":"T180","span":{"begin":466,"end":489},"obj":"SpecificDisease"},{"id":"T181","span":{"begin":491,"end":494},"obj":"SpecificDisease"}],"attributes":[{"id":"A173","pred":"database_id","subj":"T173","obj":"D005736"},{"id":"A174","pred":"database_id","subj":"T174","obj":"D005736"},{"id":"A175","pred":"database_id","subj":"T175","obj":"D005736"},{"id":"A176","pred":"database_id","subj":"T176","obj":"D008607"},{"id":"A177","pred":"database_id","subj":"T177","obj":"D019465"},{"id":"A178","pred":"database_id","subj":"T178","obj":"D011125"},{"id":"A179","pred":"database_id","subj":"T179","obj":"D005736"},{"id":"A180","pred":"database_id","subj":"T180","obj":"D011125"},{"id":"A181","pred":"database_id","subj":"T181","obj":"D011125"}],"text":"Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.\nWe described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":8,"end":16},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":130,"end":138},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":140,"end":142},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":395,"end":421},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":460,"end":462},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":466,"end":489},"obj":"CompositeMention"},{"id":"T7","span":{"begin":491,"end":494},"obj":"SpecificDisease"}],"text":"Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.\nWe described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":8,"end":16},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":130,"end":138},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":140,"end":142},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":395,"end":421},"obj":"Modifier"},{"id":"T5","span":{"begin":460,"end":462},"obj":"Modifier"},{"id":"T6","span":{"begin":466,"end":489},"obj":"Modifier"},{"id":"T7","span":{"begin":491,"end":494},"obj":"Modifier"}],"text":"Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.\nWe described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":0,"end":16},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":122,"end":138},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":145,"end":163},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":395,"end":421},"obj":"Modifier"},{"id":"T5","span":{"begin":460,"end":462},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":466,"end":489},"obj":"Modifier"}],"text":"Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.\nWe described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":0,"end":16},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":122,"end":138},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":145,"end":163},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":395,"end":421},"obj":"CompositeMention"},{"id":"T5","span":{"begin":460,"end":462},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":466,"end":489},"obj":"SpecificDisease"}],"text":"Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.\nWe described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies."}