| Metadata | |
|---|---|
| ID | DOID:14218 |
| Name | dihydropyrimidine dehydrogenase deficiency |
| Definition | A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency |
| Xrefs |
SNOMEDCT_US_2023_03_01:238016000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Dihydrouracil Dehydrogenase deficiency [EXACT] familial pyrimidinaemia [EXACT] thymine-uracilurea [EXACT] |
| Parent Relationships |