About   Help   FAQ
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 mutation in the STIM1 gene 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory