immunodeficiency 33

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ikbkg

MIM:

MIM:300636 - IMMUNODEFICIENCY 33; IMD33

MIM:300636 - IMMUNODEFICIENCY 33; IMD33

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): combined immunodeficiency (is_a), X-linked recessive disease (is_a)