> top > docs > PubMed:263442 > annotations

PubMed:263442 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-101 Sentence denotes Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.
TextSentencer_T2 102-326 Sentence denotes A pedigree of branchio-oto-renal dysplasia (the BOR syndrome) is reported, including the documentation by serial audiometric studies of the onset and rapid progression of hearing loss in the twin sister of an affected child.
TextSentencer_T3 327-441 Sentence denotes The literature on this syndrome is analyzed to derive some figures for use in genetic counseling of such families.
TextSentencer_T4 442-765 Sentence denotes Branchio-oto-renal dysplasia is an autosomal dominant disorder in which affected individuals may have preauricular pits, lachrymal duct stenosis, hearing loss, branchial fistulas or cysts, structural defects of the outer, middle, and inner ear, and renal anomalies, which may range from mild hypoplasia to complete absence.
TextSentencer_T5 766-957 Sentence denotes Not all features of the syndrome are expressed in all carriers of the gene, but few carriers lack all the features, and the pits, branchial clefts, and hearing loss, are frequently expressed.
TextSentencer_T6 958-1095 Sentence denotes Those offspring of affected persons who have pits or fistulas are likely (about 80%) to have hearing loss of varying degrees of severity.
TextSentencer_T7 1096-1182 Sentence denotes A minority of heterozygotes (about 7%) may have hearing loss without pits or fistulas.
TextSentencer_T8 1183-1244 Sentence denotes The risk of severe renal malformation is probably fairly low.
TextSentencer_T9 1245-1445 Sentence denotes Whether families that show dominant inheritance of pits, clefts, and deafness without renal anomalies represent variants of the BOR syndrome or a separate entity (the BO syndrome), is still not clear.
TextSentencer_T10 1446-1564 Sentence denotes At present, any individual with preauricular pits and branchial clefts deserves both otologic and renal investigation.
T1 0-101 Sentence denotes Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.
T2 102-326 Sentence denotes A pedigree of branchio-oto-renal dysplasia (the BOR syndrome) is reported, including the documentation by serial audiometric studies of the onset and rapid progression of hearing loss in the twin sister of an affected child.
T3 327-441 Sentence denotes The literature on this syndrome is analyzed to derive some figures for use in genetic counseling of such families.
T4 442-765 Sentence denotes Branchio-oto-renal dysplasia is an autosomal dominant disorder in which affected individuals may have preauricular pits, lachrymal duct stenosis, hearing loss, branchial fistulas or cysts, structural defects of the outer, middle, and inner ear, and renal anomalies, which may range from mild hypoplasia to complete absence.
T5 766-957 Sentence denotes Not all features of the syndrome are expressed in all carriers of the gene, but few carriers lack all the features, and the pits, branchial clefts, and hearing loss, are frequently expressed.
T6 958-1095 Sentence denotes Those offspring of affected persons who have pits or fistulas are likely (about 80%) to have hearing loss of varying degrees of severity.
T7 1096-1182 Sentence denotes A minority of heterozygotes (about 7%) may have hearing loss without pits or fistulas.
T8 1183-1244 Sentence denotes The risk of severe renal malformation is probably fairly low.
T9 1245-1445 Sentence denotes Whether families that show dominant inheritance of pits, clefts, and deafness without renal anomalies represent variants of the BOR syndrome or a separate entity (the BO syndrome), is still not clear.
T10 1446-1564 Sentence denotes At present, any individual with preauricular pits and branchial clefts deserves both otologic and renal investigation.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 129-144 HP_0000110 denotes renal dysplasia
T2 258-285 HP_0001730 denotes progression of hearing loss
T3 273-285 HP_0000365 denotes hearing loss
T4 455-470 HP_0000110 denotes renal dysplasia
T5 477-495 HP_0000006 denotes autosomal dominant
T6 544-561 HP_0004467 denotes preauricular pits
T7 588-600 HP_0000365 denotes hearing loss
T8 602-629 HP_0009796 denotes branchial fistulas or cysts
T9 602-620 HP_0009795 denotes branchial fistulas
T10 691-706 HP_0012210 denotes renal anomalies
T11 691-706 HP_0000077 denotes renal anomalies
T12 918-930 HP_0000365 denotes hearing loss
T13 1051-1063 HP_0000365 denotes hearing loss
T14 1144-1156 HP_0000365 denotes hearing loss
T15 1202-1220 HP_0012210 denotes renal malformation
T16 1202-1220 HP_0000077 denotes renal malformation
T17 1314-1322 HP_0000365 denotes deafness
T18 1331-1346 HP_0012210 denotes renal anomalies
T19 1331-1346 HP_0000077 denotes renal anomalies
T20 1478-1495 HP_0004467 denotes preauricular pits

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 57-60 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T2 682-685 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T3 61-65 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T4 557-561 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T5 890-894 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T6 1003-1007 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T7 1165-1169 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T8 1296-1300 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T9 1491-1495 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T10 573-577 http://purl.obolibrary.org/obo/UBERON_0000058 denotes duct

BioLarkPubmedHPO

Id Subject Object Predicate Lexical cue
HP:0000110 129-144 HP:0000110 denotes renal dysplasia
HP:0000365 273-285 HP:0000365 denotes hearing loss
HP:0000110 455-470 HP:0000110 denotes renal dysplasia
HP:0000006 477-495 HP:0000006 denotes autosomal dominant
HP:0004467 544-561 HP:0004467 denotes preauricular pits
HP:0007925 563-586 HP:0007925 denotes lachrymal duct stenosis
HP:0000365 588-600 HP:0000365 denotes hearing loss
HP:0009795 602-620 HP:0009795 denotes branchial fistulas
HP:0009796 602-629 HP:0009796 denotes branchial fistulas or cysts
HP:0000359 631-685 HP:0000359 denotes structural defects of the outer, middle, and inner ear
HP:0000356 631-685 HP:0000356 denotes structural defects of the outer, middle, and inner ear
HP:0000370 631-685 HP:0000370 denotes structural defects of the outer, middle, and inner ear
HP:0000598 631-685 HP:0000598 denotes structural defects of the outer, middle, and inner ear
HP:0000077 691-706 HP:0000077 denotes renal anomalies
HP:0004467 890-894 HP:0004467 denotes pits
HP:0009794 896-912 HP:0009794 denotes branchial clefts
HP:0000365 918-930 HP:0000365 denotes hearing loss
HP:0004467 1003-1007 HP:0004467 denotes pits
HP:0009794 1011-1019 HP:0009794 denotes fistulas
HP:0000365 1051-1063 HP:0000365 denotes hearing loss
HP:0000365 1144-1156 HP:0000365 denotes hearing loss
HP:0000792 1202-1220 HP:0000792 denotes renal malformation
HP:0000006 1272-1292 HP:0000006 denotes dominant inheritance
HP:0004467 1296-1300 HP:0004467 denotes pits
HP:0009794 1302-1308 HP:0009794 denotes clefts
HP:0000404 1314-1322 HP:0000404 denotes deafness
HP:0004467 1478-1495 HP:0004467 denotes preauricular pits
HP:0009794 1500-1516 HP:0009794 denotes branchial clefts
HP:0000598 1531-1539 HP:0000598 denotes otologic
HP:0000077 1544-1563 HP:0000077 denotes renal investigation
T1 129-144 HP:0000110 denotes renal dysplasia
T2 273-285 HP:0000365 denotes hearing loss
T3 455-470 HP:0000110 denotes renal dysplasia
T4 477-495 HP:0000006 denotes autosomal dominant
T5 544-561 HP:0004467 denotes preauricular pits
T6 563-586 HP:0007925 denotes lachrymal duct stenosis
T7 588-600 HP:0000365 denotes hearing loss
T8 602-620 HP:0009795 denotes branchial fistulas
T9 602-629 HP:0009796 denotes branchial fistulas or cysts
T10 631-685 HP:0000359 denotes structural defects of the outer, middle, and inner ear
T11 631-685 HP:0000356 denotes structural defects of the outer, middle, and inner ear
T12 631-685 HP:0000370 denotes structural defects of the outer, middle, and inner ear
T13 631-685 HP:0000598 denotes structural defects of the outer, middle, and inner ear
T14 691-706 HP:0000077 denotes renal anomalies
T15 890-894 HP:0004467 denotes pits
T16 896-912 HP:0009794 denotes branchial clefts
T17 918-930 HP:0000365 denotes hearing loss
T18 1003-1007 HP:0004467 denotes pits
T19 1011-1019 HP:0009794 denotes fistulas
T20 1051-1063 HP:0000365 denotes hearing loss
T21 1144-1156 HP:0000365 denotes hearing loss
T22 1202-1220 HP:0000792 denotes renal malformation
T23 1272-1292 HP:0000006 denotes dominant inheritance
T24 1296-1300 HP:0004467 denotes pits
T25 1302-1308 HP:0009794 denotes clefts
T26 1314-1322 HP:0000404 denotes deafness
T27 1478-1495 HP:0004467 denotes preauricular pits
T28 1500-1516 HP:0009794 denotes branchial clefts
T29 1531-1539 HP:0000598 denotes otologic
T30 1544-1563 HP:0000077 denotes renal investigation
T1 129-144 HP:0000110 denotes renal dysplasia
T2 273-285 HP:0000365 denotes hearing loss
T3 455-470 HP:0000110 denotes renal dysplasia
T4 477-495 HP:0000006 denotes autosomal dominant
T5 544-561 HP:0004467 denotes preauricular pits
T6 563-586 HP:0007925 denotes lachrymal duct stenosis
T7 588-600 HP:0000365 denotes hearing loss
T8 602-620 HP:0009795 denotes branchial fistulas
T9 602-629 HP:0009796 denotes branchial fistulas or cysts
T10 631-685 HP:0000359 denotes structural defects of the outer, middle, and inner ear
T11 631-685 HP:0000356 denotes structural defects of the outer, middle, and inner ear
T12 631-685 HP:0000370 denotes structural defects of the outer, middle, and inner ear
T13 631-685 HP:0000598 denotes structural defects of the outer, middle, and inner ear
T14 691-706 HP:0000077 denotes renal anomalies
T15 890-894 HP:0004467 denotes pits
T16 896-912 HP:0009794 denotes branchial clefts
T17 918-930 HP:0000365 denotes hearing loss
T18 1003-1007 HP:0004467 denotes pits
T19 1011-1019 HP:0009794 denotes fistulas
T20 1051-1063 HP:0000365 denotes hearing loss
T21 1144-1156 HP:0000365 denotes hearing loss
T22 1202-1220 HP:0000792 denotes renal malformation
T23 1272-1292 HP:0000006 denotes dominant inheritance
T24 1296-1300 HP:0004467 denotes pits
T25 1302-1308 HP:0009794 denotes clefts
T26 1314-1322 HP:0000404 denotes deafness
T27 1478-1495 HP:0004467 denotes preauricular pits
T28 1500-1516 HP:0009794 denotes branchial clefts
T29 1531-1539 HP:0000598 denotes otologic
T30 1544-1563 HP:0000077 denotes renal investigation
T1 129-144 HP:0000110 denotes renal dysplasia
T2 273-285 HP:0000365 denotes hearing loss
T3 455-470 HP:0000110 denotes renal dysplasia
T4 477-495 HP:0000006 denotes autosomal dominant
T5 544-561 HP:0004467 denotes preauricular pits
T6 563-586 HP:0007925 denotes lachrymal duct stenosis
T7 588-600 HP:0000365 denotes hearing loss
T8 602-620 HP:0009795 denotes branchial fistulas
T9 602-629 HP:0009796 denotes branchial fistulas or cysts
T10 631-685 HP:0000359 denotes structural defects of the outer, middle, and inner ear
T11 631-685 HP:0000356 denotes structural defects of the outer, middle, and inner ear
T12 631-685 HP:0000370 denotes structural defects of the outer, middle, and inner ear
T13 631-685 HP:0000598 denotes structural defects of the outer, middle, and inner ear
T14 691-706 HP:0000077 denotes renal anomalies
T15 890-894 HP:0004467 denotes pits
T16 896-912 HP:0009794 denotes branchial clefts
T17 918-930 HP:0000365 denotes hearing loss
T18 1003-1007 HP:0004467 denotes pits
T19 1011-1019 HP:0009794 denotes fistulas
T20 1051-1063 HP:0000365 denotes hearing loss
T21 1144-1156 HP:0000365 denotes hearing loss
T22 1202-1220 HP:0000792 denotes renal malformation
T23 1272-1292 HP:0000006 denotes dominant inheritance
T24 1296-1300 HP:0004467 denotes pits
T25 1302-1308 HP:0009794 denotes clefts
T26 1314-1322 HP:0000404 denotes deafness
T27 1478-1495 HP:0004467 denotes preauricular pits
T28 1500-1516 HP:0009794 denotes branchial clefts
T29 1531-1539 HP:0000598 denotes otologic
T30 1544-1563 HP:0000077 denotes renal investigation

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 129-144 HP:0000110 denotes renal dysplasia
TI1 37-55 HP:0009795 denotes branchial fistulas
AB2 455-470 HP:0000110 denotes renal dysplasia
AB3 544-561 HP:0004467 denotes preauricular pits
AB4 602-620 HP:0009795 denotes branchial fistulas
AB5 1478-1495 HP:0004467 denotes preauricular pits

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 57-60 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T2 682-685 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T3 61-65 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T4 557-561 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T5 890-894 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T6 1003-1007 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T7 1165-1169 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T8 1296-1300 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T9 1491-1495 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits
PD-UBERON-AE-B_T10 573-577 http://purl.obolibrary.org/obo/UBERON_0000058 denotes duct

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 23-35 ORDO:107 denotes BOR syndrome
AB1 129-144 ORDO:93108 denotes renal dysplasia
AB2 150-162 ORDO:107 denotes BOR syndrome
AB3 455-470 ORDO:93108 denotes renal dysplasia
AB4 1373-1385 ORDO:107 denotes BOR syndrome