Disease association ontology term - MONDO:0014807 - spinal muscular atrophy with congenital bone fractures 2
Term summary
- ID
- MONDO:0014807
- Name
- spinal muscular atrophy with congenital bone fractures 2
- Ontology or CV name
- Disease association
- Definition
- Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.
