OBO ID: DOID:0111973
Term Name: immunodeficiency 17 Search Ontology:
Synonyms:
  • CD3-gamma deficiency
  • IMD17
  • immunodeficiency 17, CD3 gamma deficient
  • SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
Definition: A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3G on chromosome 11q23.3. (3)
References:
Ontology: Human Disease   (DOID:0111973)
OTHER immunodeficiency 17 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CD3G Immunodeficiency 17, CD3 gamma deficient 615607
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None