Immunodeficiency 7
Disease ID: disease_node_20004
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| Dbxref | MIM:615387, ORDO:397959, UMLS_CUI:C3809332 |
|---|---|
| Subclassof | DOID_11200, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD7, TCR-alpha-beta-positive T-cell deficiency, immunodeficiency 7, TCR-alpha/beta deficient |
| Doid Label | immunodeficiency 7 |
| Doid Description | A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20004 |
| Doid Id | DOID_0111977 |
| Label | Immunodeficiency 7 |
- 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)