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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

GARD:12893

OMIM:PS609060

Parent Relationships

is_a mitochondrial metabolism disease

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