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DO Term : immunodeficiency 51 [DOID:0111996] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1.
  • synonyms:
  • 613953,
  • OMIM:613953,
  • IMD51,
  • CANDF5,
  • familial candidiasis 5
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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