mitochondrial disease

Findings

No curated finding names mitochondrial disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• disease by developmental or physiological process

Narrower terms (12)

• ACO2-related optic atrophy with or without extraocular features
• autosomal dominant optic atrophy plus syndrome
• Bjornstad syndrome
• ethylmalonic encephalopathy
• FDXR-related optic atrophy mitochondrial dysfunction syndrome
• GRACILE syndrome
• hereditary myopathy with lactic acidosis due to ISCU deficiency
• inborn mitochondrial metabolism disorder
• maternally-inherited cardiomyopathy and hearing loss
• mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
• pure mitochondrial myopathy
• X-linked sideroblastic anemia with ataxia