| Disease ID | Source | Name | Description |
| 618839 | OMIM | Combined oxidative phosphorylation deficiency 42 (COXPD42) | An autosomal recessive mitochondrial disorder characterized by onset in the first months of life, cardiomyopathy, respiratory insufficiency, lactic acidosis, anemia, and variable impairment of mitochondrial respiratory complexes I, III, and IV. Death occurs in infancy. The disease is caused by variants affecting the gene represented in this entry. |