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PubMed:10482951 JSONTXT

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PubmedHPO

Id Subject Object Predicate Lexical cue
T1 227-252 HP_0010864 denotes severe mental retardation
T2 234-252 HP_0001249 denotes mental retardation
T3 254-276 HP_0005484 denotes postnatal microcephaly
T4 264-276 HP_0000252 denotes microcephaly
T5 278-289 HP_0000154 denotes macrostomia
T6 294-304 HP_0000303 denotes prognathia
T7 306-323 HP_0001344 denotes absence of speech
T8 325-331 HP_0001251 denotes ataxia
T9 339-356 HP_0040082 denotes happy disposition
T10 438-445 HP_0001513 denotes obesity
T11 447-465 HP_0001252 denotes muscular hypotonia
T12 456-465 HP_0001252 denotes hypotonia
T13 470-493 HP_0001256 denotes mild mental retardation
T14 475-493 HP_0001249 denotes mental retardation

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10482951-4#28#33#gene6638 624-629 gene6638 denotes SNRPN
10482951-4#67#69#diseaseC0162635 663-665 diseaseC0162635 denotes AS
28#33#gene663867#69#diseaseC0162635 10482951-4#28#33#gene6638 10482951-4#67#69#diseaseC0162635 associated_with SNRPN,AS

BioLarkPubmedHPO

Id Subject Object Predicate Lexical cue
HP:0002187 227-252 HP:0002187 denotes severe mental retardation
HP:0005484 254-276 HP:0005484 denotes postnatal microcephaly
HP:0000181 278-289 HP:0000181 denotes macrostomia
HP:0000303 294-304 HP:0000303 denotes prognathia
HP:0001617 306-323 HP:0001617 denotes absence of speech
HP:0001251 325-331 HP:0001251 denotes ataxia
HP:0100024 339-356 HP:0100024 denotes happy disposition
HP:0001513 438-445 HP:0001513 denotes obesity
HP:0001252 447-465 HP:0001252 denotes muscular hypotonia
HP:0001256 470-493 HP:0001256 denotes mild mental retardation
T1 227-252 HP:0002187 denotes severe mental retardation
T2 254-276 HP:0005484 denotes postnatal microcephaly
T3 278-289 HP:0000181 denotes macrostomia
T4 294-304 HP:0000303 denotes prognathia
T5 306-323 HP:0001617 denotes absence of speech
T6 325-331 HP:0001251 denotes ataxia
T7 339-356 HP:0100024 denotes happy disposition
T8 438-445 HP:0001513 denotes obesity
T9 447-465 HP:0001252 denotes muscular hypotonia
T10 470-493 HP:0001256 denotes mild mental retardation
T1 227-252 HP:0002187 denotes severe mental retardation
T2 254-276 HP:0005484 denotes postnatal microcephaly
T3 278-289 HP:0000181 denotes macrostomia
T4 294-304 HP:0000303 denotes prognathia
T5 306-323 HP:0001617 denotes absence of speech
T6 325-331 HP:0001251 denotes ataxia
T7 339-356 HP:0100024 denotes happy disposition
T8 438-445 HP:0001513 denotes obesity
T9 447-465 HP:0001252 denotes muscular hypotonia
T10 470-493 HP:0001256 denotes mild mental retardation
T1 227-252 HP:0002187 denotes severe mental retardation
T2 254-276 HP:0005484 denotes postnatal microcephaly
T3 278-289 HP:0000181 denotes macrostomia
T4 294-304 HP:0000303 denotes prognathia
T5 306-323 HP:0001617 denotes absence of speech
T6 325-331 HP:0001251 denotes ataxia
T7 339-356 HP:0100024 denotes happy disposition
T8 438-445 HP:0001513 denotes obesity
T9 447-465 HP:0001252 denotes muscular hypotonia
T10 470-493 HP:0001256 denotes mild mental retardation

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 53-60 HP:0001513 denotes obesity
TI2 62-80 HP:0001252 denotes muscular hypotonia
AB1 254-276 HP:0005484 denotes postnatal microcephaly
AB2 325-331 HP:0001251 denotes ataxia
AB3 438-445 HP:0001513 denotes obesity
AB4 447-465 HP:0001252 denotes muscular hypotonia

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-169 Sentence denotes A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.
TextSentencer_T2 170-357 Sentence denotes The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition.
TextSentencer_T3 358-494 Sentence denotes We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation.
TextSentencer_T4 495-595 Sentence denotes Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome.
TextSentencer_T5 596-716 Sentence denotes DNA methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent.
TextSentencer_T6 717-837 Sentence denotes Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance.
TextSentencer_T7 838-937 Sentence denotes We conclude that these patients have an imprinting defect and a previously unrecognised form of AS.
TextSentencer_T8 938-1034 Sentence denotes The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism.
T1 0-169 Sentence denotes A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.
T2 170-357 Sentence denotes The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition.
T3 358-494 Sentence denotes We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation.
T4 495-595 Sentence denotes Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome.
T5 596-716 Sentence denotes DNA methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent.
T6 717-837 Sentence denotes Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance.
T7 838-937 Sentence denotes We conclude that these patients have an imprinting defect and a previously unrecognised form of AS.
T8 938-1034 Sentence denotes The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism.

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 195-212 ORDO:72 denotes Angelman syndrome
AB2 278-289 ORDO:141276 denotes macrostomia
TI1 120-137 ORDO:72 denotes Angelman syndrome
AB3 573-594 ORDO:739 denotes Prader-Willi syndrome

DisGeNET

Id Subject Object Predicate Lexical cue
T0 624-629 gene:6638 denotes SNRPN
T1 663-665 disease:C0162635 denotes AS
R1 T0 T1 associated_with SNRPN,AS