immunodeficiency 17

Summary

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, SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive, immunodeficiency 17, CD3 gamma deficient,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cd3g

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): T cell deficiency (is_a), autosomal recessive disease (is_a)