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Disease Ontology Browser
immunodeficiency 10 (DOID:0111970)
Alliance: disease page
Synonyms: CID due to STIM1 deficiency; combined immunodeficiency due to STIM1 deficiency; IMD10; immune dysfunction with T-cell inactivation due to calcium entry defect 2; STIM1 deficiency
Alt IDs: OMIM:612783, MESH:C557827, ORDO:317430, UMLS_CUI:C2748557
Definition: A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4.


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