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ONTOLOGY REPORT - ANNOTATIONS


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.


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thiopurine S-methyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpmt thiopurine S-methyltransferase JBrowse link 17 18,029,090 18,047,716 RGD:8554872
RGD:11554173
Poor Metabolism of Thiopurines, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpmt thiopurine S-methyltransferase JBrowse link 17 18,029,090 18,047,716 RGD:7240710
RGD:8554872
Poor Metabolism of Thiopurines, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nudt15 nudix hydrolase 15 JBrowse link 15 55,417,774 55,456,698 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        inherited metabolic disorder 1895
          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 15502
    disease of anatomical entity 14856
      Immune & Inflammatory Diseases 3130
        immune system disease 2548
          hypersensitivity reaction disease 1496
            allergic hypersensitivity disease 556
              drug allergy 104
                thiopurine S-methyltransferase deficiency 2
                  Poor Metabolism of Thiopurines, 1 1
                  Poor Metabolism of Thiopurines, 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.