| Disease ID | Source | Name | Description |
| 616539 | OMIM | Combined oxidative phosphorylation deficiency 26 (COXPD26) | A mitochondrial disorder characterized by lactic acidosis, multiple mitochondrial respiratory-chain-complex deficiencies in skeletal muscle, and additional variable features including hypertrophic cardiomyopathy, exercise intolerance, and failure to thrive. The disease is caused by variants affecting the gene represented in this entry. |