Cd3Epsilon Deficiency
Disease ID: disease_node_13324
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| Subclassof | DOID_0050737, DOID_627 |
|---|---|
| Data Source | DOID |
| Doid Label | CD3epsilon deficiency |
| Doid Description | A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13324 |
| Doid Id | DOID_0060017 |
| Label | Cd3Epsilon Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)