> top > docs > PubMed:657583 > annotations

PubMed:657583 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-99 Sentence denotes Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.
TextSentencer_T2 100-215 Sentence denotes Three families are presented, one with branchio-oto-renal dysplasia (BOR) and two with branchio-oto dysplasia (BO).
TextSentencer_T3 216-362 Sentence denotes The former syndrome is characterized by external ear malformations, cervical fistulae, mixed hearing loss and renal anomalies of varying severity.
TextSentencer_T4 363-499 Sentence denotes The latter syndrome differs in that there are no renal anomalies and that the sensorineural component of the hearing loss may be absent.
TextSentencer_T5 500-568 Sentence denotes The external ear malformations are quite variable in both syndromes.
TextSentencer_T6 569-738 Sentence denotes Evidence is presented which supports the idea that these two syndromes are not phenotypic variants of the same autosomal dominant mutation but distinct disease entities.
TextSentencer_T7 739-1073 Sentence denotes The BOR syndrome appears to belong to a larger group of hereditary ear dysplasia-renal adysplasia syndromes that must be carefully ruled out in all patients with familial branchial arch malformations as well as in the parents and siblings of infants with "Potter facies" in the presence of auricular malformation and renal adysplasia.
T1 0-99 Sentence denotes Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.
T2 100-215 Sentence denotes Three families are presented, one with branchio-oto-renal dysplasia (BOR) and two with branchio-oto dysplasia (BO).
T3 216-362 Sentence denotes The former syndrome is characterized by external ear malformations, cervical fistulae, mixed hearing loss and renal anomalies of varying severity.
T4 363-499 Sentence denotes The latter syndrome differs in that there are no renal anomalies and that the sensorineural component of the hearing loss may be absent.
T5 500-568 Sentence denotes The external ear malformations are quite variable in both syndromes.
T6 569-738 Sentence denotes Evidence is presented which supports the idea that these two syndromes are not phenotypic variants of the same autosomal dominant mutation but distinct disease entities.
T7 739-1073 Sentence denotes The BOR syndrome appears to belong to a larger group of hereditary ear dysplasia-renal adysplasia syndromes that must be carefully ruled out in all patients with familial branchial arch malformations as well as in the parents and siblings of infants with "Potter facies" in the presence of auricular malformation and renal adysplasia.

BioLarkPubmedHPO

Id Subject Object Predicate Lexical cue
T1 152-167 HP:0000110 denotes renal dysplasia
T2 256-282 HP:0000356 denotes external ear malformations
T3 284-301 HP:0009795 denotes cervical fistulae
T4 303-321 HP:0000410 denotes mixed hearing loss
T5 309-321 HP:0000365 denotes hearing loss
T6 326-341 HP:0000077 denotes renal anomalies
T7 504-530 HP:0000356 denotes external ear malformations
T8 680-698 HP:0000006 denotes autosomal dominant
T9 806-819 HP:0000598 denotes ear dysplasia
T10 820-836 HP:0004721 denotes renal adysplasia
T11 910-938 HP:0009794 denotes branchial arch malformations
T12 995-1008 HP:0002009 denotes Potter facies
T13 1029-1051 HP:0000356 denotes auricular malformation
T14 1056-1072 HP:0004721 denotes renal adysplasia
T1 152-167 HP:0000110 denotes renal dysplasia
T2 256-282 HP:0000356 denotes external ear malformations
T3 284-301 HP:0009795 denotes cervical fistulae
T4 303-321 HP:0000410 denotes mixed hearing loss
T5 309-321 HP:0000365 denotes hearing loss
T6 326-341 HP:0000077 denotes renal anomalies
T7 504-530 HP:0000356 denotes external ear malformations
T8 680-698 HP:0000006 denotes autosomal dominant
T9 806-819 HP:0000598 denotes ear dysplasia
T10 820-836 HP:0004721 denotes renal adysplasia
T11 910-938 HP:0009794 denotes branchial arch malformations
T12 995-1008 HP:0002009 denotes Potter facies
T13 1029-1051 HP:0000356 denotes auricular malformation
T14 1056-1072 HP:0004721 denotes renal adysplasia

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 13-28 HP:0000110 denotes renal dysplasia
AB1 152-167 HP:0000110 denotes renal dysplasia
AB2 256-282 HP:0008572 denotes external ear malformations
AB3 504-530 HP:0008572 denotes external ear malformations
AB4 995-1008 HP:0002009 denotes Potter facies

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 256-268 http://purl.obolibrary.org/obo/UBERON_0001691 denotes external ear
PD-UBERON-AE-B_T2 504-516 http://purl.obolibrary.org/obo/UBERON_0001691 denotes external ear
PD-UBERON-AE-B_T3 265-268 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T4 513-516 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T5 806-809 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 13-28 ORDO:93108 denotes renal dysplasia
AB1 152-167 ORDO:93108 denotes renal dysplasia
AB2 743-755 ORDO:107 denotes BOR syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 265-268 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T2 513-516 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T3 806-809 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T4 256-268 http://purl.obolibrary.org/obo/UBERON_0001691 denotes external ear
PD-UBERON-AE-B_T5 504-516 http://purl.obolibrary.org/obo/UBERON_0001691 denotes external ear