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Disease Ontology Browser
immunodeficiency 9 (DOID:0111976)
Alliance: disease page
Synonyms: CID due to ORAI1 deficiency; combined immunodeficiency due to ORAI1 deficiency; IMD9; immune dysfunction with T-cell inactivation due to calcium entry defect 1
Alt IDs: OMIM:612782, MESH:C557826, ORDO:317428, UMLS_CUI:C2748568
Definition: A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory