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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:Poor Metabolism of Thiopurines, 2
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Accession:DOID:9002041 term browser browse the term
Definition:A severe hematopoietic toxicity upon treatment of patients with standard doses of thiopurines, a class of antineoplastic/immunosuppressant agents that consists of mercaptopurine, thioguanine, and azathioprine. (OMIM)
Synonyms:exact_synonym: THPM2
 primary_id: OMIM:616903
For additional species annotation, visit the Alliance of Genome Resources.



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Poor Metabolism of Thiopurines, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: THIOPURINES, POOR METABOLISM OF, 2
ClinVar Annotator: match by term: Thiopurines, poor metabolism of, 2
ClinVar
OMIM
PMID:22992668 PMID:25108385 PMID:25624441 PMID:26033531 PMID:26076924 More... NCBI chr15:48,707,776...48,747,363
Ensembl chr15:48,709,700...48,747,363
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Nutritional and Metabolic Diseases 5591
      disease of metabolism 5591
        inherited metabolic disorder 2661
          thiopurine S-methyltransferase deficiency 2
            Poor Metabolism of Thiopurines, 2 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Immune & Inflammatory Diseases 4049
        immune system disease 3407
          allergic disease 602
            drug allergy 115
              thiopurine S-methyltransferase deficiency 2
                Poor Metabolism of Thiopurines, 2 1
paths to the root