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Disease Ontology Browser
immunodeficiency 18 (DOID:0111971)
Alliance: disease page
Synonyms: CD3-epsilon deficiency; IMD18
Alt IDs: OMIM:615615
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 CD3E on chromosome 11q23.3.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/05/2021
MGI 6.17
The Jackson Laboratory