autosomal recessive MSMD due to complete RORgamma receptor defiencyautosomal recessive primary immunodeficiency due to RORC mutationIMD42autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.