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Summary Literature (0)
DOID:0111996 - immunodeficiency 51


Disease Ontology Definition: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 IL17RA on chromosome 22q11.1.

Synonyms: CANDF5, IMD51, familial candidiasis 5

Xenbase Genes : il17ra


OMIM:
OMIM:613953 - IMMUNODEFICIENCY 51; IMD51

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), primary immunodeficiency disease (is_a)