Cerebrooculofacioskeletal syndrome 1

Definition

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.

Also known as cerebrooculofacioskeletal syndrome 1, cerebrooculofacioskeletal syndrome type 1, COFS syndrome caused by mutation in ERCC6, COFS1, ERCC6 COFS syndrome — per MONDO

Also identified as

• DOID 0080911 per MONDO
• NCIT C173085 per MONDO
• OMIM 214150 per MONDO
• UMLS C0220722 per MONDO