General Information of Disease (ID: DISSNV1N)

Disease Name Immunodeficiency 51
Synonyms candidiasis, familial, 5; IMD51; candidiasis, familial, 5, formerly; CANDF5; candidiasis, familial chronic mucocutaneous, autosomal recessive; candidiasis, familial, type 5; immunodeficiency 51
Disease Hierarchy
DISPSGYF: Chronic mucocutaneous candidiasis
DISSNV1N: Immunodeficiency 51
Disease Identifiers
MONDO ID
MONDO_0013500
UMLS CUI
C4310803
OMIM ID
613953
MedGen ID
934770

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IL17RA OTVVI8ER Strong Autosomal recessive [1]
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References

1 Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011 Apr 1;332(6025):65-8. doi: 10.1126/science.1200439. Epub 2011 Feb 24.