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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 mutation in the STIM1 gene 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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      primary immunodeficiency disease 4152
        T cell and NK cell immunodeficiency 4
          immunodeficiency 10 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5574
        immune system disease 4782
          primary immunodeficiency disease 4152
            combined immunodeficiency 896
              severe combined immunodeficiency 486
                immunodeficiency 10 1
paths to the root