Ontological Term Details

Compound
FDB006426 (Uracil)
Term
Dihydropyrimidine dehydrogenase deficiency
Definition
A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. (do).
Parent Term
Metabolism and nutrition disorders
Parent Definition
A group of disorders, inherited or not, that result in a metabolic malfunction.
Synonyms
  • Dpd deficiency
  • Dihydropyrimidine dehydrogenase (dpd) deficiency
    • Other Compounds Mapped to 'Dihydropyrimidine dehydrogenase deficiency'
  • FDB002253 (3-Aminopropanoic acid)
  • FDB021922 (Thymine)
  • FDB030556 (5,6-dihydrouracil)
  • FDB006426 (Uracil)

    • References