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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:Phenacetin O-Deethylase, Deficiency of
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Accession:DOID:9007703 term browser browse the term
Synonyms:exact_synonym: PHENACETIN METABOLISM, DEFECT IN
 related_synonym: Metabolizer of a cognitive enhancer
 primary_id: MESH:C565127;   RDO:0013854
 alt_id: OMIA:001405


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Phenacetin O-Deethylase, Deficiency of term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO Metabolizer of a cognitive enhancer OMIA PMID:14744947 PMID:15564884 PMID:15742977 PMID:16473917 PMID:16882764 More... NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        inherited metabolic disorder 6611
          Phenacetin O-Deethylase, Deficiency of 1
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          inherited metabolic disorder 6611
            Phenacetin O-Deethylase, Deficiency of 1
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