Immunodeficiency 24
Disease ID: disease_node_13320
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| Dbxref | MIM:615897, ORDO:420573, UMLS_CUI:C4014617 |
|---|---|
| Subclassof | DOID_0050737, DOID_627 |
| Data Source | DOID |
| Synonyms | IMD24, SCID due to CTPS1 deficiency, severe combined immunodeficiency due to CTPS1 deficiency |
| Doid Label | immunodeficiency 24 |
| Doid Description | A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13320 |
| Doid Id | DOID_0111938 |
| Label | Immunodeficiency 24 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)