dihydropyrimidinase deficiency

Summary

DOID:0111629 - dihydropyrimidinase deficiency

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

Synonyms: dihydropyrimidinuria, DPH deficiency, DPYSD, DPYS deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dpys

MIM:

MIM:222748 - DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD

MIM:222748 - DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD

Other Model Organisms: Alliance, 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)