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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:thiopurine S-methyltransferase deficiency
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Accession:DOID:0080172 term browser browse the term
Definition:An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. (DO)
Synonyms:exact_synonym: 6 alpha mercaptopurine sensitivity;   TPMT deficiency;   TPMTD;   poor metabolism of thiopurines;   poor metabolism of thiopurines-1;   thiopurine methyltransferase deficiency
 related_synonym: azathioprine intolerance
 primary_id: MESH:C536512
 xref: MIM:PS610460


show annotations for term's descendants           Sort by:
thiopurine S-methyltransferase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpmt thiopurine S-methyltransferase ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thiopurine S-methyltransferase deficiency
OMIM:610460		 CTD
ClinVar
MouseDO		 PMID:1960624 PMID:7862671 PMID:8561894 PMID:8644731 PMID:9177237 More... NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709 		JBrowse link
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 ClinVar Annotator: match by term: THIOPURINES, POOR METABOLISM OF, 1 OMIM
ClinVar		 PMID:8561894 PMID:9931345 PMID:25741868 NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709 		JBrowse link
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 OMIM
ClinVar		 PMID:22992668 PMID:25108385 PMID:25624441 PMID:25741868 PMID:26033531 More... NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    Nutritional and Metabolic Diseases 8518
      disease of metabolism 8518
        inherited metabolic disorder 6602
          thiopurine S-methyltransferase deficiency 2
            Poor Metabolism of Thiopurines, 1 1
            Poor Metabolism of Thiopurines, 2 1
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      Immune & Inflammatory Diseases 5737
        immune system disease 4926
          allergic disease 618
            drug allergy 117
              thiopurine S-methyltransferase deficiency 2
                Poor Metabolism of Thiopurines, 1 1
                Poor Metabolism of Thiopurines, 2 1
paths to the root