Disease association ontology term - MONDO:0012554 - cerebrooculofacioskeletal syndrome 4
Term summary
- ID
- MONDO:0012554
- Name
- cerebrooculofacioskeletal syndrome 4
- Ontology or CV name
- Disease association
- Definition
- Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.
