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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:dihydropyrimidinase deficiency
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Accession:DOID:0111629 term browser browse the term
Definition:A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in DPYS on chromosome 8q22.3. (DO)
Synonyms:exact_synonym: DIHYDROPYRIMIDINURIA;   DPH deficiency;   DPYS deficiency;   DPYSD
 primary_id: MESH:C562815
 alt_id: OMIM:222748
 xref: GARD:12347;   ORDO:38874
For additional species annotation, visit the Alliance of Genome Resources.

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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 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 PMID:23732435 PMID:28492532 PMID:28642038 PMID:29054612 PMID:30384990 NCBI chr 7:78,769,918...78,847,941
Ensembl chr 7:78,769,807...78,847,974 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        inherited metabolic disorder 2235
          pyrimidine metabolic disorder 2
            dihydropyrimidinase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                dihydropyrimidinase deficiency 1
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