Term Name:	dihydropyrimidinase deficiency
Synonyms:	dihydropyrimidinuria, DPH deficiency, DPYS deficiency, DPYSD
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.
Ontology:	Human Disease [DOID:0111629]   ( DOID:0111629 )