Search Ontology:
Human Disease

dihydropyrimidine dehydrogenase deficiency

Term ID
DOID:14218
Synonyms
  • Dihydrouracil Dehydrogenase deficiency
  • familial pyrimidinaemia
  • thymine-uracilurea
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. http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency
References
Ontology
Human Disease   ( DOID:14218 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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