ZFIN Human Disease: immunodeficiency 20

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 the FCGR3A gene on chromosome 1q23.3. https://pubmed.ncbi.nlm.nih.gov/23006327/
References:	OMIM:615707 ORDO:437552
Ontology:	Human Disease ( DOID:0111941 )

Relationships

is a type of:	autosomal recessive disease primary immunodeficiency disease autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

OTHER immunodeficiency 20 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FCGR3A		Immunodeficiency 20

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None