Immunodeficiency 31A
Disease ID: disease_node_20018
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| Dbxref | MIM:614892, ORDO:319595 |
|---|---|
| Subclassof | DOID_0050736, DOID_612 |
| Data Source | DOID |
| Synonyms | IMD31A, MSMD due to partial STAT1 deficiency, MSMD due to partial signal transducer and activator of transcription 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency, autosomal dominant immunodeficiency 31A, mycobacteriosis |
| Doid Label | immunodeficiency 31A |
| Doid Description | A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20018 |
| Doid Id | DOID_0111945 |
| Label | Immunodeficiency 31A |
- Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)