|OBO ID: DOID:0111629|
|Term Name:||dihydropyrimidinase deficiency||Search 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. (2)|
|Ontology:||Human Disease (DOID:0111629)|
|is a type of:||
OTHER dihydropyrimidinase deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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