Disease association ontology term - MONDO:0009783 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Term summary
- ID
- MONDO:0009783
- Name
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- Ontology or CV name
- Disease association
- Definition
- Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.