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Disease Ontology Browser
immunodeficiency 25 (DOID:0111942)
Alliance: disease page
Synonyms: IMD25; immunodeficiency due to defect in CD3-zeta
Alt IDs: OMIM:610163, MESH:C565712, UMLS_CUI:C1857798
Definition: A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2.

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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory