Disease association ontology term - MONDO:0018958 - nemaline myopathy
Term summary
- ID
- MONDO:0018958
- Name
- nemaline myopathy
- Ontology or CV name
- Disease association
- Definition
- Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.