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Human Disease

combined oxidative phosphorylation deficiency

Term ID
DOID:0060286
Synonyms
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
References
Ontology
Human Disease   ( DOID:0060286 )
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is a type of
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