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PubMed:21564178 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-89 Sentence denotes New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
TextSentencer_T2 90-215 Sentence denotes Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene.
TextSentencer_T3 216-304 Sentence denotes The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy.
TextSentencer_T4 305-535 Sentence denotes In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.
T1 0-89 Sentence denotes New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
T2 90-215 Sentence denotes Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene.
T3 216-304 Sentence denotes The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy.
T4 305-535 Sentence denotes In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 15-21 gene:11005 denotes SPINK5
T1 70-88 disease:C0265962 denotes Netherton syndrome
T2 203-209 gene:11005 denotes SPINK5
T3 90-108 disease:C0265962 denotes Netherton syndrome
T4 347-353 gene:11005 denotes SPINK5
T5 391-393 disease:C0265962 denotes NS
R1 T0 T1 associated_with SPINK5,Netherton syndrome
R2 T2 T3 associated_with SPINK5,Netherton syndrome
R3 T4 T5 associated_with SPINK5,NS

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 124-143 HP_0000007 denotes autosomal recessive
T2 246-267 HP_0007431 denotes congenital ichthyosis
T3 257-267 HP_0008064 denotes ichthyosis

Allie

Id Subject Object Predicate Lexical cue
SS1_21564178_1_0 90-108 expanded denotes Netherton syndrome
SS2_21564178_1_0 110-112 abbr denotes NS
AE1_21564178_1_0 SS1_21564178_1_0 SS2_21564178_1_0 abbreviatedTo Netherton syndrome,NS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
21564178-0#15#21#gene11005 15-21 gene11005 denotes SPINK5
21564178-0#70#88#diseaseC0265962 70-88 diseaseC0265962 denotes Netherton syndrome
15#21#gene1100570#88#diseaseC0265962 21564178-0#15#21#gene11005 21564178-0#70#88#diseaseC0265962 associated_with SPINK5,Netherton syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 257-267 HP:0008064 denotes ichthyosis

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 90-108 ORDO:634 denotes Netherton syndrome
TI1 70-88 ORDO:634 denotes Netherton syndrome