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DOID:0111956 - immunodeficiency 27B
Disease Ontology Definition:A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
Synonyms: IMD27B, autosomal dominant IFNGR1 deficiency, autosomal dominant MSMD due to partial IFNgammaR1 deficiency, autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency, autosomal dominant immunodeficiency 27B, mycobacteriosis, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency,
Xenbase Genes
:
ifngr1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee