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mitochondrial complex III deficiency

Disease Summary
Associated Targets (11)
Tbio

9

Tchem

1

Tdark

1


Mondo Description Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
Disease Ontology Description A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III.
Mondo Term and Equivalent IDs
MONDO:0015448:  mitochondrial complex III deficiency
Orphanet:1460: