Disease association ontology term - MONDO:0009669 - spinal muscular atrophy, type 1
Term summary
- ID
- MONDO:0009669
- Name
- spinal muscular atrophy, type 1
- Ontology or CV name
- Disease association
- Definition
- A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
