Search Ontology:
Human Disease
dihydropyrimidinase deficiency
- Term ID
- DOID:0111629
- Synonyms
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- 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. (2)
- References
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- GARD:12347
- MESH:C562815
- MIM:222748
- ORDO:38874
- SNOMEDCT_US_2023_03_01:238014002
- UMLS_CUI:C0342803
- Ontology
- Human Disease ( DOID:0111629 )
- is a type of
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Genes Involved
Zebrafish Models