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Metadata
ID DOID:0111940
Name immunodeficiency 42
Definition A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in RORC on chromosome 1q21.3.
https://pubmed.ncbi.nlm.nih.gov/26160376/
Xrefs

OMIM:616622

ORDO:477857

Synonyms

autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [EXACT]

autosomal recessive MSMD due to complete RORgamma receptor defiency [EXACT]

autosomal recessive primary immunodeficiency due to RORC mutation [EXACT]

IMD42 [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

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