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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
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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;   thiopurine S-methyltransferase deficiency;   thiopurine methyltransferase deficiency
 related_synonym: azathioprine intolerance
 primary_id: MESH:C536512
 xref: MIM:PS610460


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poor metabolism of thiopurines 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
OMIM:610460
ClinVar Annotator: match by term: Thiopurine S-methyltransferase deficiency 		CTD
MouseDO
ClinVar		 PMID:1960624 PMID:7862671 PMID:8561894 PMID:8644731 PMID:9177237 More... NCBI chr17:17,850,308...17,868,976
Ensembl chr17:17,850,279...17,868,976 		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: TPMT-related condition OMIM
ClinVar		 PMID:8561894 PMID:9931345 PMID:23400745 PMID:25741868 NCBI chr17:17,850,308...17,868,976
Ensembl chr17:17,850,279...17,868,976 		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: NUDT15-related condition | ClinVar Annotator: match by term: Thiopurines, poor metabolism of, 2 OMIM
ClinVar		 PMID:22992668 PMID:25108385 PMID:25624441 PMID:26033531 PMID:26076924 More... NCBI chr15:55,117,312...55,123,983 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Chemically-Induced Disorders 1510
      Drug-Related Side Effects and Adverse Reactions 670
        drug allergy 117
          poor metabolism of thiopurines 2
            poor metabolism of thiopurines 1 1
            poor metabolism of thiopurines 2 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                poor metabolism of thiopurines 2
                  poor metabolism of thiopurines 1 1
                  poor metabolism of thiopurines 2 1
paths to the root