Immunodeficiency 19
Disease ID: disease_node_13316
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| Dbxref | MIM:615617, UMLS_CUI:C3810147 |
|---|---|
| Subclassof | DOID_0050737, DOID_627 |
| Data Source | DOID |
| Synonyms | CD3-delta deficiency, IMD19, SCID T cell-negative, B cell-positive, NK cell-positive, severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive |
| Doid Label | immunodeficiency 19 |
| Doid Description | A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13316 |
| Doid Id | DOID_0111972 |
| Label | Immunodeficiency 19 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)