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mitochondrial DNA depletion syndrome, encephalomyopathic form
Disease Summary
Associated Targets (5)
Tbio
3
Tclin
1
Tchem
1
Mondo Description Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.
Mondo Term and Equivalent IDs
MONDO:0016796: mitochondrial DNA depletion syndrome, encephalomyopathic form
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:254803
UMLS:CN202052
UMLS:CN230130
MONDO:0016796
High level summary of knowledge for a disease, including descriptions and datasource references.