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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, 1
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Accession:DOID:9006969 term browser browse the term
Synonyms:exact_synonym: THPM1
 primary_id: OMIM:610460
For additional species annotation, visit the Alliance of Genome Resources.



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Poor Metabolism of Thiopurines, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpmt thiopurine S-methyltransferase ISO OMIM NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
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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, 1 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, 1 1
paths to the root