ZFIN Human Disease: immunodeficiency 18

OBO ID: DOID:0111971

Term Name:	immunodeficiency 18		Search Ontology:
Synonyms:	CD3-epsilon deficiency IMD18
Definition:	A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. (2)
References:	OMIM:615615
Ontology:	Human Disease ( DOID:0111971 )

Relationships

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

OTHER immunodeficiency 18 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CD3E		Immunodeficiency 18
		Immunodeficiency 18, SCID variant

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None