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immunodeficiency 20 (DOID:0111941)
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Synonyms: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity; autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity; CD16 deficiency; IMD20
Alt IDs: OMIM:615707, ORDO:437552
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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory