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DO Term : immunodeficiency 31C [DOID:0111946] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • CANDF7,
  • autosomal dominant chronic mucocutaneous familial candidiasis,
  • autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,
  • autosomal dominant immunodeficiency 31C,
  • IMD31C,
  • familial candidiasis 7,
  • 614162,
  • OMIM:614162,
  • ORDO:391487
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents