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combined oxidative phosphorylation deficiency 28
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.
Uniprot Description An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death.
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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:0111470
OMIM:616794
Orphanet:466784
UMLS:C4225206
MONDO:0014775
High level summary of knowledge for a disease, including descriptions and datasource references.