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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      primary immunodeficiency disease 2340
        T cell and NK cell immunodeficiency 4
          immunodeficiency 10 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Immune & Inflammatory Diseases 3504
        immune system disease 2921
          primary immunodeficiency disease 2340
            combined immunodeficiency 149
              severe combined immunodeficiency 91
                immunodeficiency 10 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.