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DOID:0111973 - immunodeficiency 17
Disease Ontology 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 the CD3G gene on chromosome 11q23.3.
Synonyms: CD3-gamma deficiency, IMD17, immunodeficiency 17, CD3 gamma deficient, SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
Xenbase Genes
:
cd3g
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee