immunodeficiency 31C

Summary

DOID:0111946 - immunodeficiency 31C

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: stat1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), primary immunodeficiency disease (is_a)