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Disease Ontology Browser
immunodeficiency 42 (DOID:0111940)
Alliance: disease page
Synonyms: autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency; autosomal recessive MSMD due to complete RORgamma receptor defiency; autosomal recessive primary immunodeficiency due to RORC mutation; IMD42
Alt IDs: OMIM:616622, ORDO:477857
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 the RORC gene on chromosome 1q21.3.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory