ZFIN Human Disease: immunodeficiency 31C

OBO ID: DOID:0111946

Term Name:	immunodeficiency 31C		Search Ontology:
Synonyms:	autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome autosomal dominant chronic mucocutaneous familial candidiasis autosomal dominant immunodeficiency 31C CANDF7 familial candidiasis 7 IMD31C
Definition:	A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. (3)
References:	OMIM:614162 ORDO:391487
Ontology:	Human Disease ( DOID:0111946 )

Relationships

is a type of:	autosomal dominant disease primary immunodeficiency disease autosomal dominant disease primary immunodeficiency disease Show first 5 Terms

OTHER immunodeficiency 31C PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STAT1	stat1a stat1b	Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant	614162

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None