Immunodeficiency 17
Disease ID: disease_node_20006
Connections displayed (default: 10).
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| Dbxref | MIM:615607, UMLS_CUI:C3810107 |
|---|---|
| Subclassof | DOID_0050737, DOID_11200 |
| Data Source | DOID |
| Synonyms | CD3-gamma deficiency, IMD17, SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive, immunodeficiency 17, CD3 gamma deficient |
| Doid Label | immunodeficiency 17 |
| Doid Description | A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20006 |
| Doid Id | DOID_0111973 |
| Label | Immunodeficiency 17 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from T Cell Deficiency(ID:disease_node_20002) (Disease)