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Human Disease

immunodeficiency 31C

Term ID
DOID:0111946
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
Ontology
Human Disease   ( DOID:0111946 )
Relationships
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Genes Involved
Zebrafish Models