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X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.
Uniprot Description A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals.
Mondo Term and Equivalent IDs
MONDO:0010389: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB 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.
MESH:C567068
OMIM:300645
Orphanet:319623
UMLS:C1970859
MONDO:0010389
High level summary of knowledge for a disease, including descriptions and datasource references.