|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||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. (Human Disease Ontology, DOID_14218)|
|Downloads & Tools|
1 genes/proteins associated with the disease Dihydropyrimidine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.