OBO ID: DOID:0111629 |
Term Name: | dihydropyrimidinase deficiency | Search Ontology: | |
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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 the DPYS gene on chromosome 8q22.3. (2) | ||
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Ontology: | Human Disease ( DOID:0111629 ) |
OTHER dihydropyrimidinase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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