> top > docs > PubMed:18177466 > annotations

PubMed:18177466 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-95 Sentence denotes Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
TextSentencer_T2 96-220 Sentence denotes Branchio-oto-renal (BOR) and Stickler (STL) syndromes are disorders that include hearing loss among their clinical features.
TextSentencer_T3 221-365 Sentence denotes STL syndrome type I (STL1) is a combination of ophthalmic, orofacial, articular, and auditory manifestations, caused by mutations in the COL2A1.
TextSentencer_T4 366-503 Sentence denotes BOR syndrome is an autosomal dominant trait encompassing branchial, otic and renal anomalies because of mutations in EYA1, SIX1 and SIX5.
TextSentencer_T5 504-612 Sentence denotes In this study, we have clinically and genetically diagnosed a proband that displayed STL1 and BOR syndromes.
TextSentencer_T6 613-690 Sentence denotes This patient and his younger brother exhibited hearing loss and cleft palate.
TextSentencer_T7 691-802 Sentence denotes Both siblings and their mother also showed myopia, congenital non-progressive vitreous anomaly and a flat face.
TextSentencer_T8 803-903 Sentence denotes Taken together, these clinical features are consistent with the diagnosis of a familial case of STL.
TextSentencer_T9 904-1034 Sentence denotes Sequence analysis revealed in the three patients a novel COL2A1 mutation (c.1468_1475delinsT) that accounted for a STL1 phenotype.
TextSentencer_T10 1035-1145 Sentence denotes The proband also displayed pre-auricular pits, branchial fistulae and renal agenesis that define BOR syndrome.
TextSentencer_T11 1146-1326 Sentence denotes Interestingly, this patient carries an EYA1 mutation, p.R328X, which was not present in the two other patients or in his healthy father, supporting that the mutation arose de novo.
TextSentencer_T12 1327-1502 Sentence denotes In conclusion, this report highlights the importance of molecular testing and detailed clinical evaluation for the diagnosis of syndromes with overlapping phenotypic features.
T1 0-95 Sentence denotes Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
T2 96-220 Sentence denotes Branchio-oto-renal (BOR) and Stickler (STL) syndromes are disorders that include hearing loss among their clinical features.
T3 221-365 Sentence denotes STL syndrome type I (STL1) is a combination of ophthalmic, orofacial, articular, and auditory manifestations, caused by mutations in the COL2A1.
T4 366-503 Sentence denotes BOR syndrome is an autosomal dominant trait encompassing branchial, otic and renal anomalies because of mutations in EYA1, SIX1 and SIX5.
T5 504-612 Sentence denotes In this study, we have clinically and genetically diagnosed a proband that displayed STL1 and BOR syndromes.
T6 613-690 Sentence denotes This patient and his younger brother exhibited hearing loss and cleft palate.
T7 691-802 Sentence denotes Both siblings and their mother also showed myopia, congenital non-progressive vitreous anomaly and a flat face.
T8 803-903 Sentence denotes Taken together, these clinical features are consistent with the diagnosis of a familial case of STL.
T9 904-1034 Sentence denotes Sequence analysis revealed in the three patients a novel COL2A1 mutation (c.1468_1475delinsT) that accounted for a STL1 phenotype.
T10 1035-1145 Sentence denotes The proband also displayed pre-auricular pits, branchial fistulae and renal agenesis that define BOR syndrome.
T11 1146-1326 Sentence denotes Interestingly, this patient carries an EYA1 mutation, p.R328X, which was not present in the two other patients or in his healthy father, supporting that the mutation arose de novo.
T12 1327-1502 Sentence denotes In conclusion, this report highlights the importance of molecular testing and detailed clinical evaluation for the diagnosis of syndromes with overlapping phenotypic features.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 483-487 gene:2138 denotes EYA1
T1 443-458 disease:C0266292 denotes renal anomalies
R1 T0 T1 associated_with EYA1,renal anomalies

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18177466-8#57#63#gene1280 961-967 gene1280 denotes COL2A1
18177466-8#115#119#diseaseC2020284 1019-1023 diseaseC2020284 denotes STL1
57#63#gene1280115#119#diseaseC2020284 18177466-8#57#63#gene1280 18177466-8#115#119#diseaseC2020284 associated_with COL2A1,STL1

BioLarkPubmedHPO

Id Subject Object Predicate Lexical cue
HP:0000365 177-189 HP:0000365 denotes hearing loss
HP:0000478 268-329 HP:0000478 denotes ophthalmic, orofacial, articular, and auditory manifestations
HP:0000153 280-329 HP:0000153 denotes orofacial, articular, and auditory manifestations
HP:0000271 280-329 HP:0000271 denotes orofacial, articular, and auditory manifestations
HP:0001367 291-329 HP:0001367 denotes articular, and auditory manifestations
HP:0000364 306-329 HP:0000364 denotes auditory manifestations
HP:0000006 385-409 HP:0000006 denotes autosomal dominant trait
HP:0009794 423-458 HP:0009794 denotes branchial, otic and renal anomalies
HP:0000598 434-458 HP:0000598 denotes otic and renal anomalies
HP:0000077 443-458 HP:0000077 denotes renal anomalies
HP:0000365 660-672 HP:0000365 denotes hearing loss
HP:0000175 677-689 HP:0000175 denotes cleft palate
HP:0000545 734-740 HP:0000545 denotes myopia
HP:0007773 769-785 HP:0007773 denotes vitreous anomaly
HP:0000272 792-801 HP:0000272 denotes flat face
HP:0004467 1062-1080 HP:0004467 denotes pre-auricular pits
HP:0009795 1082-1100 HP:0009795 denotes branchial fistulae
HP:0000104 1105-1119 HP:0000104 denotes renal agenesis
T1 177-189 HP:0000365 denotes hearing loss
T2 268-329 HP:0000478 denotes ophthalmic, orofacial, articular, and auditory manifestations
T3 280-329 HP:0000153 denotes orofacial, articular, and auditory manifestations
T4 280-329 HP:0000271 denotes orofacial, articular, and auditory manifestations
T5 291-329 HP:0001367 denotes articular, and auditory manifestations
T6 306-329 HP:0000364 denotes auditory manifestations
T7 385-409 HP:0000006 denotes autosomal dominant trait
T8 423-458 HP:0009794 denotes branchial, otic and renal anomalies
T9 434-458 HP:0000598 denotes otic and renal anomalies
T10 443-458 HP:0000077 denotes renal anomalies
T11 660-672 HP:0000365 denotes hearing loss
T12 677-689 HP:0000175 denotes cleft palate
T13 734-740 HP:0000545 denotes myopia
T14 769-785 HP:0007773 denotes vitreous anomaly
T15 792-801 HP:0000272 denotes flat face
T16 1062-1080 HP:0004467 denotes pre-auricular pits
T17 1082-1100 HP:0009795 denotes branchial fistulae
T18 1105-1119 HP:0000104 denotes renal agenesis
T1 177-189 HP:0000365 denotes hearing loss
T2 268-329 HP:0000478 denotes ophthalmic, orofacial, articular, and auditory manifestations
T3 280-329 HP:0000153 denotes orofacial, articular, and auditory manifestations
T4 280-329 HP:0000271 denotes orofacial, articular, and auditory manifestations
T5 291-329 HP:0001367 denotes articular, and auditory manifestations
T6 306-329 HP:0000364 denotes auditory manifestations
T7 385-409 HP:0000006 denotes autosomal dominant trait
T8 423-458 HP:0009794 denotes branchial, otic and renal anomalies
T9 434-458 HP:0000598 denotes otic and renal anomalies
T10 443-458 HP:0000077 denotes renal anomalies
T11 660-672 HP:0000365 denotes hearing loss
T12 677-689 HP:0000175 denotes cleft palate
T13 734-740 HP:0000545 denotes myopia
T14 769-785 HP:0007773 denotes vitreous anomaly
T15 792-801 HP:0000272 denotes flat face
T16 1062-1080 HP:0004467 denotes pre-auricular pits
T17 1082-1100 HP:0009795 denotes branchial fistulae
T18 1105-1119 HP:0000104 denotes renal agenesis
T1 177-189 HP:0000365 denotes hearing loss
T2 268-329 HP:0000478 denotes ophthalmic, orofacial, articular, and auditory manifestations
T3 280-329 HP:0000153 denotes orofacial, articular, and auditory manifestations
T4 280-329 HP:0000271 denotes orofacial, articular, and auditory manifestations
T5 291-329 HP:0001367 denotes articular, and auditory manifestations
T6 306-329 HP:0000364 denotes auditory manifestations
T7 385-409 HP:0000006 denotes autosomal dominant trait
T8 423-458 HP:0009794 denotes branchial, otic and renal anomalies
T9 434-458 HP:0000598 denotes otic and renal anomalies
T10 443-458 HP:0000077 denotes renal anomalies
T11 660-672 HP:0000365 denotes hearing loss
T12 677-689 HP:0000175 denotes cleft palate
T13 734-740 HP:0000545 denotes myopia
T14 769-785 HP:0007773 denotes vitreous anomaly
T15 792-801 HP:0000272 denotes flat face
T16 1062-1080 HP:0004467 denotes pre-auricular pits
T17 1082-1100 HP:0009795 denotes branchial fistulae
T18 1105-1119 HP:0000104 denotes renal agenesis

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 797-801 http://purl.obolibrary.org/obo/UBERON_0001456 denotes face
PD-UBERON-AE-B_T2 1076-1080 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 677-689 HP:0000175 denotes cleft palate
AB2 734-740 HP:0000545 denotes myopia
AB3 792-801 HP:0012368 denotes flat face
AB4 1066-1080 HP:0030025 denotes auricular pits
AB5 1082-1100 HP:0009795 denotes branchial fistulae
AB6 1105-1119 HP:0000104 denotes renal agenesis

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 366-378 ORDO:107 denotes BOR syndrome
AB2 598-611 ORDO:107 denotes BOR syndromes
AB3 1105-1119 ORDO:411709 denotes renal agenesis
AB4 1132-1144 ORDO:107 denotes BOR syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 797-801 http://purl.obolibrary.org/obo/UBERON_0001456 denotes face
PD-UBERON-AE-B_T2 1076-1080 http://purl.obolibrary.org/obo/UBERON_0016566 denotes pits