Disease association ontology term - MONDO:0008955 - cerebrooculofacioskeletal syndrome 1
Term summary
- ID
- MONDO:0008955
- Name
- cerebrooculofacioskeletal syndrome 1
- Ontology or CV name
- Disease association
- Definition
- Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.
