| Disease ID | Source | Name | Description |
| 604290 | OMIM | Aceruloplasminemia (ACERULOP) | An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances. The disease is caused by variants affecting the gene represented in this entry. |