| Disease ID | Source | Name | Description |
| 540000 | OMIM | Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) | Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. The disease is caused by variants affecting the gene represented in this entry. |
| 535000 | OMIM | Leber hereditary optic neuropathy (LHON) | A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. The disease is caused by variants affecting the gene represented in this entry. |
| 500001 | OMIM | Leber hereditary optic neuropathy with dystonia (LDYT) | Part of a spectrum of Leber hereditary optic neuropathy. It is characterized by the association of optic atrophy and central vision loss with dystonia. The disease is caused by variants affecting the gene represented in this entry. |