| Disease ID | Source | Name | Description |
| 260005 | OMIM | 5-oxoprolinase deficiency (OPLAHD) | A disorder characterized by calcium oxalate/carbonate urolithiasis, and excessive urinary 5-oxo-L-proline. Affected individuals have recurrent episodes of vomiting, diarrhea, and abdominal pain. The disease is caused by variants affecting the gene represented in this entry. |