| Metadata | |
|---|---|
| ID | DOID:0060286 |
| Name | combined oxidative phosphorylation deficiency |
| Definition | A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |