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Summary Literature (0)
DOID:14218 - dihydropyrimidine dehydrogenase deficiency

Disease Ontology 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.

Synonyms: Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency (disorder), Dihydrouracil Dehydrogenase deficiency, familial pyrimidinaemia, thymine-uracilurea

Xenbase Genes : dpyd

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010130 - dihydropyrimidine dehydrogenase deficiency


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): purine-pyrimidine metabolic disorder (is_a)