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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.
Term:immunodeficiency 10
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Accession:DOID:0111970 term browser browse the term
Definition: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
 primary_id: MESH:C557827
 alt_id: OMIM:612783
 xref: ORDO:317430
For additional species annotation, visit the Alliance of Genome Resources.

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immunodeficiency 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stim1 stromal interaction molecule 1 ISO 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		 OMIM
ClinVar		 PMID:19420366 PMID:20876309 PMID:21427704 PMID:22190180 PMID:24621671 PMID:25741868 PMID:25918394 PMID:26560041 PMID:28492532 NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      primary immunodeficiency disease 2364
        T cell and NK cell immunodeficiency 4
          immunodeficiency 10 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Immune & Inflammatory Diseases 3578
        immune system disease 2948
          primary immunodeficiency disease 2364
            combined immunodeficiency 147
              severe combined immunodeficiency 93
                immunodeficiency 10 1
paths to the root