| Metadata | |
|---|---|
| ID | DOID:0111629 |
| Name | dihydropyrimidinase deficiency |
| 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. https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/29054612 |
| Xrefs |
SNOMEDCT_US_2023_03_01:238014002 |
| Subsets |
DO_rare_slim |
| Synonyms |
dihydropyrimidinuria [EXACT] DPH deficiency [EXACT] DPYS deficiency [EXACT] DPYSD [EXACT] |
| Parent Relationships |