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Summary Literature (0)
DOID:0111629 - dihydropyrimidinase deficiency


Disease Ontology Definition:A pyrimidine metabolic disorder characterized by a defect in the degredation 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 DPYS on chromosome 8q22.3.

Synonyms: DPH deficiency, DPYS deficiency, DPYSD, dihydropyrimidinuria

Xenbase Genes : dpys


OMIM:
OMIM:222748 - DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD

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

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