OBO ID: DOID:0111629
Term Name: dihydropyrimidinase deficiency Search Ontology:
Synonyms:
  • dihydropyrimidinuria
  • DPH deficiency
  • DPYS deficiency
  • DPYSD
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. (2)
References:
Ontology: Human Disease   (DOID:0111629)
OTHER dihydropyrimidinase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DPYS Dihydropyrimidinuria 222748
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None