| Disease ID | Source | Name | Description |
| 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 distinct genetic loci, including the gene represented in this entry. |
| 500000 | OMIM | Cardiomyopathy, infantile histiocytoid (CMIH) | A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome. The disease is caused by variants affecting the gene represented in this entry. |