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Disease Ontology Browser
dihydropyrimidine dehydrogenase deficiency (DOID:14218)
Alliance: disease page
Synonyms: Dihydrouracil Dehydrogenase deficiency; familial pyrimidinaemia; thymine-uracilurea
Alt IDs: OMIM:274270, MESH:D054067, NCI:C84672, UMLS_CUI:C1959620, UMLS_CUI:C3495551
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory