Disease association ontology term - MONDO:0008050 - MYH7-related skeletal myopathy
Term summary
- ID
- MONDO:0008050
- Name
- MYH7-related skeletal myopathy
- Ontology or CV name
- Disease association
- Definition
- A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement.
