Disease association ontology term - MONDO:0009673 - spinal muscular atrophy, type II
Term summary
- ID
- MONDO:0009673
- Name
- spinal muscular atrophy, type II
- Ontology or CV name
- Disease association
- Definition
- Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
