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mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.
Uniprot Description A primary immunodeficiency predisposing individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines. Patients are also susceptible to Salmonella and Mycobacterium tubercolosis infections. Affected individuals have intracranial calcification.
Mondo Term and Equivalent IDs
MONDO:0014502: mendelian susceptibility to mycobacterial diseases due to complete ISG15 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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616126
Orphanet:319563
UMLS:C4015293
MONDO:0014502
High level summary of knowledge for a disease, including descriptions and datasource references.