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Echinobase
Summary Literature (0)
DOID:0111971 - immunodeficiency 18

Disease Ontology 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.

Synonyms: CD3-epsilon deficiency, IMD18,

Echinobase Genes :


OMIM:
MIM:615615 - immunodeficiency 18; imd18

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), primary immunodeficiency disease (is_a)