Immunodeficiency 53
Disease ID: disease_node_13307
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617585, UMLS_CUI:C4539811 |
|---|---|
| Subclassof | DOID_628, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD53 |
| Doid Label | immunodeficiency 53 |
| Doid Description | A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13307 |
| Doid Id | DOID_0111992 |
| Label | Immunodeficiency 53 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Combined T Cell And B Cell Immunodeficiency(ID:disease_node_13297) (Disease)