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Summary Literature (0)
DOID:0112003 - immunodeficiency 33

Disease Ontology Definition:A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28.

Synonyms: IMD33, X-linked MSMD due to IKBKG deficiency, X-linked MSMD due to NEMO deficiency, X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency, X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency,

Xenbase Genes : ikbkg



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): combined immunodeficiency (is_a)