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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 Drug Metabolism, CYP2D6-Related
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Accession:DOID:9002295 term browser browse the term
Synonyms:narrow_synonym: CODEINE, ULTRARAPID METABOLISM OF;   DEBRISOQUINE, POOR METABOLISM OF;   DEBRISOQUINE, ULTRARAPID METABOLISM OF;   DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED;   NORTRIPTYLINE, POOR METABOLISM OF;   poor metabolism of sparteine
 primary_id: MESH:C563835
 alt_id: OMIM:608902
For additional species annotation, visit the Alliance of Genome Resources.



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Poor Drug Metabolism, CYP2D6-Related term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO ClinVar Annotator: match by synonym: Debrisoquine, poor metabolism of
ClinVar Annotator: match by term: Codeine, ultrarapid metabolism of
ClinVar Annotator: match by term: Debrisoquine, poor metabolism of
OMIM
ClinVar
PMID:1346258 PMID:1673290 PMID:1782973 PMID:1978251 PMID:1978565 More... NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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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
          Poor Drug Metabolism, CYP2D6-Related 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            Poor Drug Metabolism, CYP2D6-Related 1
paths to the root