Immunodeficiency 32A
Disease ID: disease_node_20187
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| Dbxref | MIM:614893, ORDO:319600, UMLS_CUI:C3808589 |
|---|---|
| Subclassof | DOID_0050736, DOID_0111963 |
| Data Source | DOID |
| Synonyms | IMD32A, MSMD due to partial IRF8 deficiency, MSMD due to partial interferon regulatory factor 8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency, immunodeficiency 32A, mycobacteriosis, autosomal dominant |
| Doid Label | immunodeficiency 32A |
| Doid Description | A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20187 |
| Doid Id | DOID_0111986 |
| Label | Immunodeficiency 32A |
- Outgoing r'ship
SUBCLASS_OFto/from Dendritic Cell Deficiency(ID:disease_node_20188) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)