PubMed:19861875 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":67},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":68,"end":231},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":232,"end":330},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":331,"end":594},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":67},"obj":"Sentence"},{"id":"T2","span":{"begin":68,"end":231},"obj":"Sentence"},{"id":"T3","span":{"begin":232,"end":330},"obj":"Sentence"},{"id":"T4","span":{"begin":331,"end":594},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Epstein syndrome with rapid progression to end stage renal disease.\nThe association of haematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport syndrome with macro thrombocytopenia. We are presenting a missed case of a boy who presented with epistaxis and his diagnostic work up revealed macrothrombocytopenia, sensorineural hearing loss and chronic nephropathy which constitute the Epstein syndrome, with rapid deterioration of kidney function."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":578,"end":584},"obj":"http://purl.obolibrary.org/obo/UBERON_0002113"}],"text":"Epstein syndrome with rapid progression to end stage renal disease.\nThe association of haematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport syndrome with macro thrombocytopenia. We are presenting a missed case of a boy who presented with epistaxis and his diagnostic work up revealed macrothrombocytopenia, sensorineural hearing loss and chronic nephropathy which constitute the Epstein syndrome, with rapid deterioration of kidney function."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":131,"end":140},"obj":"HP:0000123"},{"id":"AB2","span":{"begin":313,"end":329},"obj":"HP:0001873"},{"id":"AB3","span":{"begin":391,"end":400},"obj":"HP:0000421"},{"id":"AB4","span":{"begin":437,"end":458},"obj":"HP:0040185"},{"id":"AB5","span":{"begin":499,"end":510},"obj":"HP:0000112"}],"text":"Epstein syndrome with rapid progression to end stage renal disease.\nThe association of haematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport syndrome with macro thrombocytopenia. We are presenting a missed case of a boy who presented with epistaxis and his diagnostic work up revealed macrothrombocytopenia, sensorineural hearing loss and chronic nephropathy which constitute the Epstein syndrome, with rapid deterioration of kidney function."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":286,"end":301},"obj":"ORDO:63"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Epstein syndrome with rapid progression to end stage renal disease.\nThe association of haematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport syndrome with macro thrombocytopenia. We are presenting a missed case of a boy who presented with epistaxis and his diagnostic work up revealed macrothrombocytopenia, sensorineural hearing loss and chronic nephropathy which constitute the Epstein syndrome, with rapid deterioration of kidney function."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":578,"end":584},"obj":"http://purl.obolibrary.org/obo/UBERON_0002113"}],"text":"Epstein syndrome with rapid progression to end stage renal disease.\nThe association of haematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport syndrome with macro thrombocytopenia. We are presenting a missed case of a boy who presented with epistaxis and his diagnostic work up revealed macrothrombocytopenia, sensorineural hearing loss and chronic nephropathy which constitute the Epstein syndrome, with rapid deterioration of kidney function."}