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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:5 Alpha Fluorouracil Toxicity
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Accession:DOID:9001629 term browser browse the term
Synonyms:primary_id: MESH:C531667;   RDO:0000098


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5 Alpha Fluorouracil Toxicity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:CDS:p.R399Q (human) RGD PMID:23604281 RGD:150530625 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15685
    Nutritional and Metabolic Diseases 7198
      disease of metabolism 7198
        inherited metabolic disorder 5570
          purine-pyrimidine metabolic disorder 204
            dihydropyrimidine dehydrogenase deficiency 2
              5 Alpha Fluorouracil Toxicity 1
Path 2
Term Annotations click to browse term
  disease 15685
    Developmental Disease 13611
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12665
        genetic disease 12315
          inherited metabolic disorder 5570
            purine-pyrimidine metabolic disorder 204
              dihydropyrimidine dehydrogenase deficiency 2
                5 Alpha Fluorouracil Toxicity 1
paths to the root