Disease association ontology term - MONDO:0011577 - myopathy, proximal, and ophthalmoplegia
Term summary
- ID
- MONDO:0011577
- Name
- myopathy, proximal, and ophthalmoplegia
- Ontology or CV name
- Disease association
- Definition
- Any congenital myopathy in which the cause of the disease is a mutation in MYH2 gene. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. It can show both autosomal dominant and autosomal recessive inheritance.
