Immunodeficiency 15B
Disease ID: disease_node_13318
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| Dbxref | MIM:615592, UMLS_CUI:C4747743 |
|---|---|
| Subclassof | DOID_0050737, DOID_627 |
| Data Source | DOID |
| Synonyms | IMD15B |
| Doid Label | immunodeficiency 15B |
| Doid Description | A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13318 |
| Doid Id | DOID_0111959 |
| Label | Immunodeficiency 15B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)