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fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
Uniprot Description A mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes.
Mondo Term and Equivalent IDs
MONDO:0012512: fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111486
MESH:C566467
OMIM:610505
Orphanet:168566
SCTID:720951008
MONDO:0012512
High level summary of knowledge for a disease, including descriptions and datasource references.