FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 9 ID (Ontology) DOID:0111976 (Human Disease)
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.
Also Known As "CID due to ORAI1 deficiency" ; "combined immunodeficiency due to ORAI1 deficiency" ; "IMD9" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 9       1
 for disease ribbon | immunodeficiency 9       1
 model of | immunodeficiency 9       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__T cell deficiency_____________|
                                  immunodeficiency 9  1 rec.
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Is a autosomal recessive disease
T cell deficiency
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Synonyms
  • "CID due to ORAI1 deficiency" EXACT
    "combined immunodeficiency due to ORAI1 deficiency" EXACT
    "IMD9" EXACT OMO:0003012
    "immune dysfunction with T-cell inactivation due to calcium entry defect 1" EXACT
Secondary IDs
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MESH:C557826
MIM:612782
ORDO:317428
UMLS_CUI:C2748568