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 and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4. (DO)
Synonyms:
exact_synonym:
CID due to STIM1 deficiency; IMD10; Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2; STIM1 deficiency; combined immunodeficiency due to STIM1 deficiency
ClinVar Annotator: match by OMIM:612783 ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 2 ClinVar Annotator: match by term: STIM1 DEFICIENCY