| Disease ID | Source | Name | Description |
| 603592 | OMIM | Xanthinuria 2 (XAN2) | A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. In addition, XAN2 patients cannot metabolize allopurinol into oxypurinol due to dual deficiency of xanthine dehydrogenase and aldehyde oxidase. The disease is caused by variants affecting the gene represented in this entry. |