Parent term(s)
mitochondrial metabolism disease
+
Term with siblings
mitochondrial complex V (ATP synthase) deficiency +
adult-onset ataxia and polyneuropathy
coenzyme Q10 deficiency disease
+
combined oxidative phosphorylation deficiency
+
cytochrome-c oxidase deficiency disease
+
deafness-dystonia-optic neuronopathy syndrome
ethylmalonic encephalopathy
GRACILE syndrome
mitochondrial complex I deficiency
+
mitochondrial complex II deficiency
mitochondrial complex III deficiency
+
mitochondrial DNA depletion syndrome
+
mitochondrial pyruvate carrier deficiency
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
multiple mitochondrial dysfunctions syndrome
+
NARP syndrome
neonatal severe encephalopathy with lactic acidosis and brain abnormalities
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Pearson syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Child term(s)
mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1
mitochondrial complex V (ATP synthase) deficiency nuclear type 1
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
mitochondrial complex V (ATP synthase) deficiency nuclear type 3
mitochondrial complex V (ATP synthase) deficiency nuclear type 4
+
mitochondrial complex V (ATP synthase) deficiency nuclear type 5
mitochondrial complex V (ATP synthase) deficiency nuclear type 6
mitochondrial complex V (ATP synthase) deficiency nuclear type 7
denotes an 'is-a' relationship