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PubMed:23158907 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-90 Sentence denotes Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
TextSentencer_T2 91-236 Sentence denotes Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin hyperextensibility and tissue fragility.
TextSentencer_T3 237-276 Sentence denotes No heart involvement has been reported.
TextSentencer_T4 277-329 Sentence denotes Two forms have been described: type VII A and VII B.
TextSentencer_T5 330-457 Sentence denotes The abnormally processed collagen α2(I) and the skipping of the exon 6 in COL1A2 gene are typically detected in EDS type VII B.
TextSentencer_T6 458-615 Sentence denotes We describe a seven-year old female, with a phenotype consistent with EDS type VII B and a diagnosis further confirmed by biochemical and molecular analyses.
TextSentencer_T7 616-680 Sentence denotes Cardiac ultrasound showed normal data in the first year of life.
TextSentencer_T8 681-816 Sentence denotes When she was 5 years old, the patient developed mitral valve regurgitation, and aortic and tricuspidal insufficiency at 7 years of age.
TextSentencer_T9 817-905 Sentence denotes To our knowledge, this is the first report of cardiac valvular involvement in EDS VII B.
TextSentencer_T10 906-993 Sentence denotes This feature probably has been underreported for the limited follow-up of the patients.
TextSentencer_T11 994-1077 Sentence denotes Echocardiography might be warranted in the clinical assessment of EDS VII patients.
T1 0-90 Sentence denotes Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
T2 91-236 Sentence denotes Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin hyperextensibility and tissue fragility.
T3 237-276 Sentence denotes No heart involvement has been reported.
T4 277-329 Sentence denotes Two forms have been described: type VII A and VII B.
T5 330-457 Sentence denotes The abnormally processed collagen α2(I) and the skipping of the exon 6 in COL1A2 gene are typically detected in EDS type VII B.
T6 458-615 Sentence denotes We describe a seven-year old female, with a phenotype consistent with EDS type VII B and a diagnosis further confirmed by biochemical and molecular analyses.
T7 616-680 Sentence denotes Cardiac ultrasound showed normal data in the first year of life.
T8 681-816 Sentence denotes When she was 5 years old, the patient developed mitral valve regurgitation, and aortic and tricuspidal insufficiency at 7 years of age.
T9 817-905 Sentence denotes To our knowledge, this is the first report of cardiac valvular involvement in EDS VII B.
T10 906-993 Sentence denotes This feature probably has been underreported for the limited follow-up of the patients.
T11 994-1077 Sentence denotes Echocardiography might be warranted in the clinical assessment of EDS VII patients.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 404-410 gene:1278 denotes COL1A2
T1 442-445 disease:C0013720 denotes EDS
R1 T0 T1 associated_with COL1A2,EDS

Allie

Id Subject Object Predicate Lexical cue
SS1_23158907_1_0 91-113 expanded denotes Ehlers Danlos syndrome
SS2_23158907_1_0 115-118 abbr denotes EDS
AE1_23158907_1_0 SS1_23158907_1_0 SS2_23158907_1_0 abbreviatedTo Ehlers Danlos syndrome,EDS

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 170-189 HP_0001382 denotes joint hypermobility
T2 191-214 HP_0000974 denotes skin hyperextensibility
T3 191-235 HP_0001030 denotes skin hyperextensibility and tissue fragility
T4 240-257 HP_0001627 denotes heart involvement
T5 729-755 HP_0001653 denotes mitral valve regurgitation
T6 761-797 HP_0001659 denotes aortic and tricuspidal insufficiency
T7 772-797 HP_0005180 denotes tricuspidal insufficiency
T8 871-891 HP_0001654 denotes valvular involvement

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 8-13 http://purl.obolibrary.org/obo/UBERON_0003978 denotes valve
PD-UBERON-AE-B_T2 736-741 http://purl.obolibrary.org/obo/UBERON_0003978 denotes valve
PD-UBERON-AE-B_T3 219-225 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T4 240-245 http://purl.obolibrary.org/obo/UBERON_0000948 denotes heart
PD-UBERON-AE-B_T5 729-741 http://purl.obolibrary.org/obo/UBERON_0002135 denotes mitral valve

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 170-189 HP:0001382 denotes joint hypermobility

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 895-902 ORDO:1899 denotes EDS VII
AB2 1060-1067 ORDO:1899 denotes EDS VII

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 219-225 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T2 240-245 http://purl.obolibrary.org/obo/UBERON_0000948 denotes heart
PD-UBERON-AE-B_T3 8-13 http://purl.obolibrary.org/obo/UBERON_0003978 denotes valve
PD-UBERON-AE-B_T4 736-741 http://purl.obolibrary.org/obo/UBERON_0003978 denotes valve
PD-UBERON-AE-B_T5 729-741 http://purl.obolibrary.org/obo/UBERON_0002135 denotes mitral valve