Immunodeficiency 27B
Disease ID: disease_node_20016
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:615978, ORDO:319581 |
|---|---|
| Subclassof | DOID_0050736, DOID_612 |
| Data Source | DOID |
| Synonyms | IMD27B, autosomal dominant IFNGR1 deficiency, autosomal dominant MSMD due to partial IFNgammaR1 deficiency, autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency, autosomal dominant immunodeficiency 27B, mycobacteriosis, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency |
| Doid Label | immunodeficiency 27B |
| Doid Description | A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20016 |
| Doid Id | DOID_0111956 |
| Label | Immunodeficiency 27B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease)