OBO ID: DOID:0111941
Term Name: immunodeficiency 20 Search Ontology:
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 FCGR3A on chromosome 1q23.3. https://pubmed.ncbi.nlm.nih.gov/23006327/
References:
Ontology: Human Disease   (DOID:0111941)
OTHER immunodeficiency 20 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FCGR3A Immunodeficiency 20 615707
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None