RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. (DO)
Synonyms:
exact_synonym:
IFNGR2 deficiency; IMD28; MSMD due to complete IFNgammaR2 deficiency; MSMD due to complete interferon gamma receptor 2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency; immunodeficiency 28, mycobacteriosis; immunodeficiency 28, mycobacteriosis, autosomal recessive