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
Ontology
Human Disease   ( DOID:0111941 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models