Cerebrooculofacioskeletal syndrome 2

Definition

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.

Also known as cerebrooculofacioskeletal syndrome 2, cerebrooculofacioskeletal syndrome type 2, COFS syndrome caused by mutation in ERCC2, COFS2, ERCC2 COFS syndrome — per MONDO

Also identified as

• DOID 0080912 per MONDO
• MESH C565185 per MONDO
• OMIM 610756 per MONDO
• UMLS C1853102 per MONDO