Disease association ontology term - MONDO:0012553 - cerebrooculofacioskeletal syndrome 2
Term summary
- ID
- MONDO:0012553
- Name
- cerebrooculofacioskeletal syndrome 2
- Ontology or CV name
- Disease association
- Definition
- Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.
