Search Ontology:
Human Disease
immunodeficiency 20
- Term ID
- DOID:0111941
- 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
- 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. https://pubmed.ncbi.nlm.nih.gov/23006327/
- References
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- MIM:615707
- ORDO:437552
- Ontology
- Human Disease ( DOID:0111941 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models