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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: OMIM:PS610460
For additional species annotation, visit the Alliance of Genome Resources.



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 ClinVar Annotator: match by OMIM:610460
ClinVar Annotator: match by term: Thiopurine methyltransferase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 OMIM 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
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          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 17289
    disease of anatomical entity 16625
      Immune & Inflammatory Diseases 4036
        immune system disease 3398
          allergic disease 597
            drug allergy 114
              thiopurine S-methyltransferase deficiency 2
                Poor Metabolism of Thiopurines, 1 1
                Poor Metabolism of Thiopurines, 2 1
paths to the root