Disease association ontology term - MONDO:0009725 - nemaline myopathy 2
Term summary
- ID
- MONDO:0009725
- Name
- nemaline myopathy 2
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
