PubMed:2817003 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":76},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":77,"end":245},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":246,"end":353},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":354,"end":486},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":76},"obj":"Sentence"},{"id":"T2","span":{"begin":77,"end":245},"obj":"Sentence"},{"id":"T3","span":{"begin":246,"end":353},"obj":"Sentence"},{"id":"T4","span":{"begin":354,"end":486},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":113,"end":121},"obj":"HP_0000526"},{"id":"T2","span":{"begin":436,"end":444},"obj":"HP_0000526"}],"text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":113,"end":121},"obj":"HP:0000526"},{"id":"TI1","span":{"begin":67,"end":75},"obj":"HP:0000526"},{"id":"AB2","span":{"begin":436,"end":444},"obj":"HP:0000526"}],"text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":104,"end":121},"obj":"ORDO:250923"},{"id":"TI1","span":{"begin":58,"end":75},"obj":"ORDO:250923"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":58,"end":75},"obj":"SpecificDisease:D015783"},{"id":"T2","span":{"begin":104,"end":121},"obj":"SpecificDisease:D015783"},{"id":"T3","span":{"begin":436,"end":444},"obj":"SpecificDisease:D015783"}],"text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T1497","span":{"begin":58,"end":75},"obj":"SpecificDisease"},{"id":"T1498","span":{"begin":104,"end":121},"obj":"SpecificDisease"},{"id":"T1499","span":{"begin":436,"end":444},"obj":"SpecificDisease"}],"attributes":[{"id":"A1497","pred":"database_id","subj":"T1497","obj":"D015783"},{"id":"A1498","pred":"database_id","subj":"T1498","obj":"D015783"},{"id":"A1499","pred":"database_id","subj":"T1499","obj":"D015783"}],"text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T1497","span":{"begin":58,"end":75},"obj":"SpecificDisease"},{"id":"T1498","span":{"begin":104,"end":121},"obj":"SpecificDisease"},{"id":"T1499","span":{"begin":436,"end":444},"obj":"SpecificDisease"}],"attributes":[{"id":"A1497","pred":"database_id","subj":"T1497","obj":"D015783"},{"id":"A1498","pred":"database_id","subj":"T1498","obj":"D015783"},{"id":"A1499","pred":"database_id","subj":"T1499","obj":"D015783"}],"text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":67,"end":75},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":113,"end":121},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":436,"end":444},"obj":"SpecificDisease"}],"text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":49,"end":75},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":104,"end":121},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":436,"end":444},"obj":"SpecificDisease"}],"text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":67,"end":75},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":113,"end":121},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":436,"end":444},"obj":"SpecificDisease"}],"text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":67,"end":75},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":113,"end":121},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":436,"end":444},"obj":"SpecificDisease"}],"text":"Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.\nA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13."}