Immunodeficiency 28
Disease ID: disease_node_20454
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| Dbxref | MIM:614889, ORDO:319547 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | 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 |
| Doid Label | immunodeficiency 28 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20454 |
| Doid Id | DOID_0111995 |
| Label | Immunodeficiency 28 |
- Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)