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Disease Ontology Browser
immunodeficiency 17 (DOID:0111973)
Alliance: disease page
Synonyms: CD3-gamma deficiency; IMD17; immunodeficiency 17, CD3 gamma deficient; SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
Alt IDs: OMIM:615607, UMLS_CUI:C3810107
Definition: A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3G 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
06/23/2022
MGI 6.20
The Jackson Laboratory