Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:0050832 term browser browse the term
Definition:An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. (DO)
Synonyms:primary_id: RDO:9003874
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
dihydropyrimidinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by OMIM:222748
ClinVar Annotator: match by term: Dihydropyrimidinase deficiency
OMIM
ClinVar
PMID:9266350 PMID:9718352 PMID:17383919 PMID:18075467 PMID:20362666 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: UMP SYNTHASE DEFICIENCY
ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1
ClinVar Annotator: match by term: Orotic aciduria
ClinVar Annotator: match by OMIM:258900
OMIM
ClinVar
PMID:9042911 PMID:16818689 PMID:20647221 PMID:22992668 PMID:24167597 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 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          pyrimidine metabolic disorder 2
            dihydropyrimidinase deficiency 1
            orotic aciduria 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
            pyrimidine metabolic disorder 2
              dihydropyrimidinase deficiency 1
              orotic aciduria 1
paths to the root