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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:T cell and NK cell immunodeficiency
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Accession:DOID:0080710 term browser browse the term
Definition:A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. (DO)
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 term: STIM1 DEFICIENCY
ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
ClinVar Annotator: match by OMIM:612783
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
immunodeficiency 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il12rb1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by OMIM:614891
ClinVar Annotator: match by term: Immunodeficiency 30
ClinVar
OMIM
PMID:9603733 PMID:11313259 PMID:11424023 PMID:11992283 PMID:12591909 PMID:12594833 PMID:12830418 PMID:15178580 PMID:15736007 PMID:16088278 PMID:16293671 PMID:17392024 PMID:19460324 PMID:21057261 PMID:21487897 PMID:21812800 PMID:24033266 PMID:24186907 PMID:25741868 PMID:26343451 PMID:26976630 PMID:27141500 PMID:28492532 PMID:29256176 PMID:30998751 NCBI chr16:20,370,722...20,383,576
Ensembl chr16:20,371,338...20,383,337
JBrowse link
immunodeficiency 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Immunodeficiency 63 with lymphoproliferation and autoimmunity OMIM
ClinVar
PMID:31040185 NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
JBrowse link
immunodeficiency 69 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 69 ClinVar
OMIM
PMID:32163377 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      primary immunodeficiency disease 2373
        T cell and NK cell immunodeficiency 4
          immunodeficiency 10 1
          immunodeficiency 30 1
          immunodeficiency 63 1
          immunodeficiency 69 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          primary immunodeficiency disease 2373
            T cell and NK cell immunodeficiency 4
              immunodeficiency 10 1
              immunodeficiency 30 1
              immunodeficiency 63 1
              immunodeficiency 69 1
paths to the root