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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
Download Data for mitochondrial complex III deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111139
Orphanet:1460
MONDO:0015448
High level summary of knowledge for a disease, including descriptions and datasource references.