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



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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 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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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
          Phenacetin O-Deethylase, Deficiency of 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
            Phenacetin O-Deethylase, Deficiency of 1
paths to the root