|
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: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
combined immunodeficiency (is_a)