STAT1-Associated Immunodeficiency

Preferred Label : STAT1-Associated Immunodeficiency;

NCIt synonyms : Familial Candidiasis 7; CANDF7; IMD31C; Immunodeficiency 31C;

NCIt definition : An autosomal dominant immune dysregulation condition characterized by chronic mucocutaneous candidiasis, as well as other variable clinical features. It is caused by gain-of-function mutation(s) in the STAT1 gene, encoding signal transducer and activator of transcription 1-alpha/beta.;

Details

Origin ID

C172099;

UMLS CUI

C3279990;

Currated CISMeF NLP mapping
- Immunodeficiency 31c [OMIM Phenotype]
- immunodeficiency 31C [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 31c [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- STAT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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