Immunodeficiency 13
Disease ID: disease_node_20008
Connections displayed (default: 10).
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| Dbxref | GARD:12375, MIM:615518, ORDO:228000, UMLS_CUI:C3809768 |
|---|---|
| Subclassof | DOID_0050736, DOID_11200 |
| Data Source | DOID |
| Synonyms | ICL, IMD13, idiopathic CD4 lymphopenia |
| Doid Label | immunodeficiency 13 |
| Doid Description | A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20008 |
| Doid Id | DOID_0111987 |
| Label | Immunodeficiency 13 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from T Cell Deficiency(ID:disease_node_20002) (Disease)