RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
CID due to ORAI1 deficiency; IMD9; combined immunodeficiency due to ORAI1 deficiency; immune dysfunction with T-cell inactivation due to calcium entry defect 1
ClinVar Annotator: match by OMIM:612782 ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 1 ClinVar Annotator: match by term: IMMUNODEFICIENCY 9