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 STAT1 on chromosome 2q32.2. (3)
References:
Ontology: Human Disease   (DOID:0111946)
OTHER immunodeficiency 31C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STAT1 Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant 614162
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None