| Metadata | |
|---|---|
| ID | DOID:0111941 |
| Name | immunodeficiency 20 |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity [EXACT] autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity [EXACT] CD16 deficiency [EXACT] IMD20 [EXACT] |
| Parent Relationships |