Disease association ontology term - MONDO:0014175 - mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Term summary
- ID
- MONDO:0014175
- Name
- mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
- Ontology or CV name
- Disease association
- Definition
- An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.
