| Disease ID | Source | Name | Description |
| 603041 | OMIM | Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) | A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy. The disease is caused by variants affecting the gene represented in this entry. |