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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:Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency
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Accession:DOID:9009063 term browser browse the term
For additional species annotation, visit the Alliance of Genome Resources.


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Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25414442 PMID:25640679 PMID:28492532 PMID:30533531 NCBI chr 9:50,664,048...50,744,803
NCBI chr 9:50,578,868...50,628,943
Ensembl chr 9:50,581,234...50,744,803
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      primary immunodeficiency disease 2694
        Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Immune & Inflammatory Diseases 3881
        immune system disease 3249
          primary immunodeficiency disease 2694
            autoimmune disease 1833
              autoimmune disease of blood 41
                primary thrombocytopenia 29
                  Evans' syndrome 1
                    Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency 1
paths to the root