FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dihydropyrimidine dehydrogenase deficiency ID (Ontology) DOID:14218 (Human Disease)
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.
Also Known As "Dihydrouracil Dehydrogenase deficiency" ; "familial pyrimidinaemia" ; "thymine-uracilurea"
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 Genes
 dihydropyrimidine dehydrogenase deficiency       1
 for disease ribbon | dihydropyrimidine dehydrogenase deficiency       1
 model of | dihydropyrimidine dehydrogenase deficiency       1
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  inherited metabolic disorder
   |__purine-pyrimidine metabolic disorder
       |__dihydropyrimidine dehydrogenase deficiency  1 rec.
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Is a purine-pyrimidine metabolic disorder
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Synonyms
  • "Dihydrouracil Dehydrogenase deficiency" EXACT
    "familial pyrimidinaemia" EXACT
    "thymine-uracilurea" EXACT
Secondary IDs
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GARD:19
MESH:D054067
MIM:274270
NCI:C84672
SNOMEDCT_US_2023_03_01:238016000
UMLS_CUI:C1959620
UMLS_CUI:C3495551