Disease association ontology term - MONDO:0008025 - neuronopathy, distal hereditary motor, type 2A
Term summary
- ID
- MONDO:0008025
- Name
- neuronopathy, distal hereditary motor, type 2A
- Ontology or CV name
- Disease association
- Definition
- Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. The presenting symptoms are paresis of the extensor muscles of the big toe and later of the extensor muscles of the feet and chronic neurogenic alterations in electromyography.
