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DOID:0111941 - immunodeficiency 20
Disease Ontology Definition:A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3.
Synonyms: CD16 deficiency, IMD20, autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity, autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,
Xenbase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee