mitochondrial respiratory chain complex deficiency mitochondrial complex IV deficiency, nuclear-type https://github.com/monarch-initiative/mondo/issues/7438 cytochrome-C oxidase deficiency MESH:D030401 NCIT:C98910 mitochondrial respiratory complex IV deficiency OMIMPS:220110 DOID:3762 GARD:0000048 cytochrome-c oxidase deficiency disease UMLS:C5779825 Cytochrome C Oxidase Deficiency A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. complex IV deficiency isolated COX deficiency Orphanet:254905 COX deficiency mitochondrial complex IV deficiency SCTID:67434000 MEDGEN:1830397 MONDO:0033885 complex 4 mitochondrial respiratory chain deficiency isolated mitochondrial respiratory chain complex IV deficiency deficiency of mitochondrial respiratory chain complex4