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autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Disease Summary
Associated Targets ()
Mondo Description Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).
Mondo Term and Equivalent IDs
MONDO:0017900: autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:319547
UMLS:CN203956
MONDO:0017900
High level summary of knowledge for a disease, including descriptions and datasource references.