immunodeficiency 42

Summary

DOID:0111940 - immunodeficiency 42

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rorc

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), primary immunodeficiency disease (is_a)