Parent term(s)
mitochondrial metabolism disease
+
Term with siblings
cytochrome-c oxidase deficiency disease +
adult-onset ataxia and polyneuropathy
coenzyme Q10 deficiency disease
+
combined oxidative phosphorylation deficiency
+
deafness-dystonia-optic neuronopathy syndrome
ethylmalonic encephalopathy
GRACILE syndrome
mitochondrial complex I deficiency
+
mitochondrial complex II deficiency
mitochondrial complex III deficiency
+
mitochondrial complex V (ATP synthase) deficiency
+
mitochondrial DNA depletion syndrome
+
mitochondrial pyruvate carrier deficiency
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
multiple mitochondrial dysfunctions syndrome
+
NARP syndrome
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Pearson syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Child term(s)
COX deficiency, benign infantile mitochondrial myopathy
+
COX deficiency, infantile mitochondrial myopathy
+
French Canadian Leigh disease
Leigh disease
mitochondrial complex IV deficiency nuclear type 23
denotes an 'is-a' relationship