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PubMed:16440883 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-98 Sentence denotes Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.
TextSentencer_T2 99-188 Sentence denotes The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet.
TextSentencer_T3 189-284 Sentence denotes Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented.
TextSentencer_T4 285-373 Sentence denotes Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases.
TextSentencer_T5 374-446 Sentence denotes We report a patient with a rare form of Apert syndrome with polydactyly.
TextSentencer_T6 447-576 Sentence denotes The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes).
TextSentencer_T7 577-703 Sentence denotes The X-rays revealed craniosynostosis of the coronal suture and preaxial polydactyly of hands and feet with distal bony fusion.
TextSentencer_T8 704-780 Sentence denotes Molecular analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene.
TextSentencer_T9 781-934 Sentence denotes Only eight patients with Apert syndrome and preaxial polydactyly have been reported and this is the first case in which molecular diagnosis is available.
TextSentencer_T10 935-1084 Sentence denotes On the basis of the molecular findings in this patient, polydactyly should be considered part of the spectrum of abnormalities in the Apert syndrome.
TextSentencer_T11 1085-1195 Sentence denotes This assertion would establish the need for a new molecular classification of the acrocephalopolysyndactylies.
T1 0-98 Sentence denotes Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.
T2 99-188 Sentence denotes The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet.
T3 189-284 Sentence denotes Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented.
T4 285-373 Sentence denotes Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases.
T5 374-446 Sentence denotes We report a patient with a rare form of Apert syndrome with polydactyly.
T6 447-576 Sentence denotes The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes).
T7 577-703 Sentence denotes The X-rays revealed craniosynostosis of the coronal suture and preaxial polydactyly of hands and feet with distal bony fusion.
T8 704-780 Sentence denotes Molecular analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene.
T9 781-934 Sentence denotes Only eight patients with Apert syndrome and preaxial polydactyly have been reported and this is the first case in which molecular diagnosis is available.
T10 935-1084 Sentence denotes On the basis of the molecular findings in this patient, polydactyly should be considered part of the spectrum of abnormalities in the Apert syndrome.
T11 1085-1195 Sentence denotes This assertion would establish the need for a new molecular classification of the acrocephalopolysyndactylies.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 87-92 gene:2263 denotes FGFR2
T1 0-14 disease:C0001193 denotes Apert syndrome
T2 87-92 gene:2263 denotes FGFR2
T3 20-40 disease:C0345354 denotes preaxial polydactyly
R1 T0 T1 associated_with FGFR2,Apert syndrome
R2 T2 T3 associated_with FGFR2,preaxial polydactyly

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 138-154 HP_0001363 denotes craniosynostosis
T2 159-169 HP_0001159 denotes syndactyly
T3 226-244 HP_0000006 denotes autosomal dominant
T4 434-445 HP_0010442 denotes polydactyly
T5 465-483 HP_0000244 denotes turribrachycephaly
T6 494-504 HP_0001159 denotes syndactyly
T7 597-628 HP_0004440 denotes craniosynostosis of the coronal
T8 597-613 HP_0001363 denotes craniosynostosis
T9 640-660 HP_0100258 denotes preaxial polydactyly
T10 640-669 HP_0001177 denotes preaxial polydactyly of hands
T11 649-669 HP_0001161 denotes polydactyly of hands
T12 649-660 HP_0010442 denotes polydactyly
T13 825-845 HP_0100258 denotes preaxial polydactyly
T14 834-845 HP_0010442 denotes polydactyly
T15 991-1002 HP_0010442 denotes polydactyly

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
16440883-0#70#79#geners79184941 70-79 geners79184941 denotes Ser252Trp
16440883-0#0#14#diseaseC0001193 0-14 diseaseC0001193 denotes Apert syndrome
70#79#geners791849410#14#diseaseC0001193 16440883-0#70#79#geners79184941 16440883-0#0#14#diseaseC0001193 associated_with Ser252Trp,Apert syndrome

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16440883-0#87#92#gene2263 87-92 gene2263 denotes FGFR2
16440883-0#20#40#diseaseC0345354 20-40 diseaseC0345354 denotes preaxial polydactyly
87#92#gene226320#40#diseaseC0345354 16440883-0#87#92#gene2263 16440883-0#20#40#diseaseC0345354 associated_with FGFR2,preaxial polydactyly

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 20-40 HP:0100258 denotes preaxial polydactyly
AB1 138-154 HP:0001363 denotes craniosynostosis
AB2 159-169 HP:0001159 denotes syndactyly
AB3 434-445 HP:0010442 denotes polydactyly
AB4 494-504 HP:0001159 denotes syndactyly
AB5 597-613 HP:0001363 denotes craniosynostosis
AB6 640-660 HP:0100258 denotes preaxial polydactyly
AB7 825-845 HP:0100258 denotes preaxial polydactyly
AB8 991-1002 HP:0010442 denotes polydactyly

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-14 ORDO:87 denotes Apert syndrome
AB1 103-117 ORDO:87 denotes Apert syndrome
AB2 414-428 ORDO:87 denotes Apert syndrome
AB3 528-540 ORDO:295012 denotes mitten hands
AB4 806-820 ORDO:87 denotes Apert syndrome
AB5 1069-1083 ORDO:87 denotes Apert syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 519-525 http://purl.obolibrary.org/obo/UBERON_0002544 denotes digits
PD-UBERON-AE-B_T2 621-635 http://purl.obolibrary.org/obo/UBERON_0002489 denotes coronal suture
PD-UBERON-AE-B_T3 629-635 http://purl.obolibrary.org/obo/UBERON_4200215 denotes suture