| Disease ID | Source | Name | Description |
| 615595 | OMIM | Combined oxidative phosphorylation deficiency 19 (COXPD19) | A mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features include gastroesophageal reflux and elevated liver enzymes with normal synthetic function. The disease is caused by variants affecting the gene represented in this entry. |