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| Term | immunodeficiency 20 | ID (Ontology) | DOID:0111941 (Human Disease) |
| 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. | ||
| Also Known As | "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity" ; "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" ; "CD16 deficiency" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease_______ immune system disease | |__primary immunodeficiency disease__| immunodeficiency 20 |
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| Is a |
autosomal recessive disease primary immunodeficiency disease |
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External Crossreferences & Linkouts
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MIM:615707 ORDO:437552 |
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