Search Ontology:
Human Disease

dihydropyrimidinase deficiency

Term ID
DOID:0111629
Synonyms
  • dihydropyrimidinuria
  • DPH deficiency
  • DPYS deficiency
  • DPYSD
(all 4)
Definition
A pyrimidine metabolic disorder characterized by a defect in the degradation 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 the DPYS gene on chromosome 8q22.3. (2)
References
(all 6)
Ontology
Human Disease   ( DOID:0111629 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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