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DOID:0112000 - immunodeficiency 34
Disease Ontology Definition:A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4.
Synonyms: AMCBX2, IMD34, X-linked MSMD due to CYBB deficiency, X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency, familial atypical mycobacteriosis X-linked 2, immunodeficiency 34, mycobacteriosis, X-linked,
Xenbase Genes
:
cybb
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
phagocyte bactericidal dysfunction (is_a)