| Disease ID | Source | Name | Description |
| 258900 | OMIM | Orotic aciduria 1 (ORAC1) | A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. The disease is caused by variants affecting the gene represented in this entry. |