| Metadata | |
|---|---|
| ID | DOID:0111973 |
| PURL | http://purl.obolibrary.org/obo/DOID_0111973 Copy |
| Name | immunodeficiency 17 |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/1635567/, https://pubmed.ncbi.nlm.nih.gov/17277165/, https://pubmed.ncbi.nlm.nih.gov/8325321/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:766879006 |
| SKOS |
exactMatch ORDO:169082 exactMatch UMLS_CUI:C3810107 exactMatch UMLS_CUI:C4510864 |
| Synonyms |
CD3-gamma deficiency [EXACT] IMD17 [EXACT] immunodeficiency 17, CD3 gamma deficient [EXACT] SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive [EXACT] |
| Parent Relationships |
is_a T cell deficiency |