Disease association ontology term - MONDO:0014838 - Coffin-Siris syndrome 5
Term summary
- ID
- MONDO:0014838
- Name
- Coffin-Siris syndrome 5
- Ontology or CV name
- Disease association
- Definition
- Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.