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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:pyrimidine metabolic disorder
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Accession:DOID:0050832 term browser browse the term
Definition:An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. (DO)


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dihydropyrimidinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpys dihydropyrimidinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DPYS-related condition | ClinVar Annotator: match by term: Dihydropyrimidinase deficiency		 OMIM
CTD
ClinVar		 PMID:9266350 PMID:9536098 PMID:9718352 PMID:16199547 PMID:17383919 More... NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
orotic aciduria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1 | ClinVar Annotator: match by term: Orotate phosphoribosyltransferase and omp decarboxylase deficiency | ClinVar Annotator: match by term: Orotic aciduria | ClinVar Annotator: match by term: Oroticaciduria 1 | ClinVar Annotator: match by term: UMP SYNTHASE DEFICIENCY | ClinVar Annotator: match by term: UMPS-related condition | ClinVar Annotator: match by term: Uridine monophosphate synthetase deficiency OMIM
ClinVar		 PMID:9042911 PMID:16199547 PMID:25741868 PMID:25757096 PMID:28205048 More... NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		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
          pyrimidine metabolic disorder 2
            dihydropyrimidinase deficiency 1
            orotic aciduria 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
            pyrimidine metabolic disorder 2
              dihydropyrimidinase deficiency 1
              orotic aciduria 1
paths to the root