Metadata | |
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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 |