Disease association ontology term - MONDO:0008758 - mitochondrial DNA depletion syndrome 4a
Term summary
- ID
- MONDO:0008758
- Name
- mitochondrial DNA depletion syndrome 4a
- Ontology or CV name
- Disease association
- Definition
- A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
