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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)



show annotations for term's descendants           Sort by:
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: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
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 term: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:9603732 PMID:9603733 PMID:11313259 PMID:11368122 More... NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769
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: IL2RB-related condition | ClinVar Annotator: match by term: Immunodeficiency 63 with lymphoproliferation and autoimmunity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31040185 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:32163377 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        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 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          primary immunodeficiency disease 4146
            T cell and NK cell immunodeficiency 4
              immunodeficiency 10 1
              immunodeficiency 30 1
              immunodeficiency 63 1
              immunodeficiency 69 1
paths to the root