OBO ID: DOID:0111976
Term Name: immunodeficiency 9 Search Ontology:
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
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 ORAI1 on chromosome 12q24.31. (2)
References:
Ontology: Human Disease   (DOID:0111976)
OTHER immunodeficiency 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ORAI1 Immunodeficiency 9 612782
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None