DO_rare_slim NCIthesaurus dihydropyrimidine dehydrogenase deficiency MESH:D054067 UMLS_CUI:C3495551 disease_ontology 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. DOID:14218 SNOMEDCT_US_2025_09_01:238016000 MIM:274270 NCI:C84672 GARD:19 UMLS_CUI:C1959620 Dihydrouracil Dehydrogenase deficiency familial pyrimidinaemia thymine-uracilurea purine-pyrimidine metabolic disorder