PubMed:10440824 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":104},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":105,"end":338},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":339,"end":423},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":424,"end":625},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":626,"end":763},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":104},"obj":"Sentence"},{"id":"T2","span":{"begin":105,"end":338},"obj":"Sentence"},{"id":"T3","span":{"begin":339,"end":423},"obj":"Sentence"},{"id":"T4","span":{"begin":424,"end":625},"obj":"Sentence"},{"id":"T5","span":{"begin":626,"end":763},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.\nWe describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":164,"end":177},"obj":"HP_0009797"},{"id":"T2","span":{"begin":182,"end":205},"obj":"HP_0001999"},{"id":"T3","span":{"begin":182,"end":211},"obj":"HP_0010827"},{"id":"T4","span":{"begin":269,"end":288},"obj":"HP_0012210"},{"id":"T5","span":{"begin":269,"end":288},"obj":"HP_0000077"},{"id":"T6","span":{"begin":391,"end":402},"obj":"HP_0009609"},{"id":"T7","span":{"begin":481,"end":494},"obj":"HP_0009797"},{"id":"T8","span":{"begin":526,"end":539},"obj":"HP_0009797"},{"id":"T9","span":{"begin":544,"end":573},"obj":"HP_0010827"},{"id":"T10","span":{"begin":544,"end":567},"obj":"HP_0001999"},{"id":"T11","span":{"begin":651,"end":664},"obj":"HP_0009797"}],"text":"Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.\nWe describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":50,"end":62},"obj":"http://purl.obolibrary.org/obo/UBERON_0001647"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":199,"end":211},"obj":"http://purl.obolibrary.org/obo/UBERON_0001647"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":410,"end":422},"obj":"http://purl.obolibrary.org/obo/UBERON_0001647"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":561,"end":573},"obj":"http://purl.obolibrary.org/obo/UBERON_0001647"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":57,"end":62},"obj":"http://purl.obolibrary.org/obo/UBERON_0001021"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":206,"end":211},"obj":"http://purl.obolibrary.org/obo/UBERON_0001021"},{"id":"PD-UBERON-AE-B_T7","span":{"begin":417,"end":422},"obj":"http://purl.obolibrary.org/obo/UBERON_0001021"},{"id":"PD-UBERON-AE-B_T8","span":{"begin":568,"end":573},"obj":"http://purl.obolibrary.org/obo/UBERON_0001021"}],"text":"Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.\nWe describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report."}

{"project":"BioLarkPubmedHPO","denotations":[{"id":"HP:0009797","span":{"begin":164,"end":177},"obj":"HP:0009797"},{"id":"HP:0010827","span":{"begin":182,"end":211},"obj":"HP:0010827"},{"id":"HP:0009794","span":{"begin":243,"end":288},"obj":"HP:0009794"},{"id":"HP:0000598","span":{"begin":259,"end":288},"obj":"HP:0000598"},{"id":"HP:0000792","span":{"begin":269,"end":288},"obj":"HP:0000792"},{"id":"HP:0010827","span":{"begin":380,"end":422},"obj":"HP:0010827"},{"id":"HP:0009797","span":{"begin":481,"end":494},"obj":"HP:0009797"},{"id":"HP:0009797","span":{"begin":526,"end":539},"obj":"HP:0009797"},{"id":"HP:0010827","span":{"begin":544,"end":573},"obj":"HP:0010827"},{"id":"HP:0009797","span":{"begin":651,"end":664},"obj":"HP:0009797"},{"id":"T1","span":{"begin":164,"end":177},"obj":"HP:0009797"},{"id":"T2","span":{"begin":182,"end":211},"obj":"HP:0010827"},{"id":"T3","span":{"begin":243,"end":288},"obj":"HP:0009794"},{"id":"T4","span":{"begin":259,"end":288},"obj":"HP:0000598"},{"id":"T5","span":{"begin":269,"end":288},"obj":"HP:0000792"},{"id":"T6","span":{"begin":380,"end":422},"obj":"HP:0010827"},{"id":"T7","span":{"begin":481,"end":494},"obj":"HP:0009797"},{"id":"T8","span":{"begin":526,"end":539},"obj":"HP:0009797"},{"id":"T9","span":{"begin":544,"end":573},"obj":"HP:0010827"},{"id":"T10","span":{"begin":651,"end":664},"obj":"HP:0009797"},{"id":"T1","span":{"begin":164,"end":177},"obj":"HP:0009797"},{"id":"T2","span":{"begin":182,"end":211},"obj":"HP:0010827"},{"id":"T3","span":{"begin":243,"end":288},"obj":"HP:0009794"},{"id":"T4","span":{"begin":259,"end":288},"obj":"HP:0000598"},{"id":"T5","span":{"begin":269,"end":288},"obj":"HP:0000792"},{"id":"T6","span":{"begin":380,"end":422},"obj":"HP:0010827"},{"id":"T7","span":{"begin":481,"end":494},"obj":"HP:0009797"},{"id":"T8","span":{"begin":526,"end":539},"obj":"HP:0009797"},{"id":"T9","span":{"begin":544,"end":573},"obj":"HP:0010827"},{"id":"T10","span":{"begin":651,"end":664},"obj":"HP:0009797"},{"id":"T1","span":{"begin":164,"end":177},"obj":"HP:0009797"},{"id":"T2","span":{"begin":182,"end":211},"obj":"HP:0010827"},{"id":"T3","span":{"begin":243,"end":288},"obj":"HP:0009794"},{"id":"T4","span":{"begin":259,"end":288},"obj":"HP:0000598"},{"id":"T5","span":{"begin":269,"end":288},"obj":"HP:0000792"},{"id":"T6","span":{"begin":380,"end":422},"obj":"HP:0010827"},{"id":"T7","span":{"begin":481,"end":494},"obj":"HP:0009797"},{"id":"T8","span":{"begin":526,"end":539},"obj":"HP:0009797"},{"id":"T9","span":{"begin":544,"end":573},"obj":"HP:0010827"},{"id":"T10","span":{"begin":651,"end":664},"obj":"HP:0009797"}],"namespaces":[{"prefix":"HP:","uri":"http://compbio.charite.de/hpoweb/showterm?id=HP:"}],"text":"Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.\nWe describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report."}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":11,"end":24},"obj":"HP:0009797"},{"id":"AB1","span":{"begin":164,"end":177},"obj":"HP:0009797"},{"id":"AB2","span":{"begin":481,"end":494},"obj":"HP:0009797"},{"id":"AB3","span":{"begin":526,"end":539},"obj":"HP:0009797"},{"id":"AB4","span":{"begin":651,"end":664},"obj":"HP:0009797"}],"text":"Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.\nWe describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":91,"end":103},"obj":"ORDO:107"},{"id":"AB1","span":{"begin":324,"end":337},"obj":"ORDO:107"},{"id":"AB2","span":{"begin":363,"end":375},"obj":"ORDO:107"},{"id":"AB3","span":{"begin":612,"end":624},"obj":"ORDO:107"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.\nWe describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":50,"end":62},"obj":"http://purl.obolibrary.org/obo/UBERON_0001647"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":199,"end":211},"obj":"http://purl.obolibrary.org/obo/UBERON_0001647"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":410,"end":422},"obj":"http://purl.obolibrary.org/obo/UBERON_0001647"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":561,"end":573},"obj":"http://purl.obolibrary.org/obo/UBERON_0001647"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":57,"end":62},"obj":"http://purl.obolibrary.org/obo/UBERON_0001021"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":206,"end":211},"obj":"http://purl.obolibrary.org/obo/UBERON_0001021"},{"id":"PD-UBERON-AE-B_T7","span":{"begin":417,"end":422},"obj":"http://purl.obolibrary.org/obo/UBERON_0001021"},{"id":"PD-UBERON-AE-B_T8","span":{"begin":568,"end":573},"obj":"http://purl.obolibrary.org/obo/UBERON_0001021"}],"text":"Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.\nWe describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report."}