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mitochondrial DNA depletion syndrome
Summary
- Synonym
-
- mtDNA depletion syndrome
- Definition
- A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.
- Super Class
- mitochondrial metabolism disease
External Links
- Disease Ontology
- DOID:0070329
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
