Immunodeficiency 26
Disease ID: disease_node_13317
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| Dbxref | MIM:615966, NCI:C176795, ORDO:317425, UMLS_CUI:C4014833 |
|---|---|
| Subclassof | DOID_0050737, DOID_627 |
| Data Source | DOID |
| Synonyms | IMD26, SCID due to DNA-PKcs deficiency, immunodeficiency 26, with or without neurologic abnormalities, severe combined immunodeficiency due to DNA-PKcs deficiency |
| Doid Label | immunodeficiency 26 |
| Doid Description | A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13317 |
| Doid Id | DOID_0111961 |
| Label | Immunodeficiency 26 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)