| Disease ID | Source | Name | Description |
| 274270 | OMIM | Dihydropyrimidine dehydrogenase deficiency (DPYDD) | A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. The disease is caused by variants affecting the gene represented in this entry. |