OBO ID: DOID:14218
Term Name: dihydropyrimidine dehydrogenase deficiency Search Ontology:
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 dihydropyrimidine dehydrogenase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DPYD Dihydropyrimidine dehydrogenase deficiency 274270
5-fluorouracil toxicity 274270
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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