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Summary Literature (0)
DOID:0111976 - immunodeficiency 9

Disease Ontology 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.

Synonyms: CID due to ORAI1 deficiency, IMD9, combined immunodeficiency due to ORAI1 deficiency, immune dysfunction with T-cell inactivation due to calcium entry defect 1,

Xenbase Genes : orai1



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): T cell deficiency (is_a), autosomal recessive disease (is_a)