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autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene.
Uniprot Description An autosomal recessive primary immunodeficiency characterized by increased susceptibility to concomitant candidiasis and mycobacteriosis. Candidiasis is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida. Mycobacteriosis is characterized by infections caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. IMD42 patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections.
Mondo Term and Equivalent IDs
MONDO:0014710: autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor 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:616622
Orphanet:477857
UMLS:C4225266
MONDO:0014710
High level summary of knowledge for a disease, including descriptions and datasource references.