Immunodeficiency 15A
Disease ID: disease_node_13298
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618204, UMLS_CUI:C4748694 |
|---|---|
| Subclassof | DOID_0050736, DOID_628 |
| Data Source | DOID |
| Synonyms | IMD15A |
| Doid Label | immunodeficiency 15A |
| Doid Description | A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13298 |
| Doid Id | DOID_0111960 |
| Label | Immunodeficiency 15A |
- Outgoing r'ship
SUBCLASS_OFto/from Combined T Cell And B Cell Immunodeficiency(ID:disease_node_13297) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)