Cerebrooculofacioskeletal syndrome 4

Definition

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.

Also known as cerebrooculofacioskeletal syndrome 4, cerebrooculofacioskeletal syndrome type 4, COFS syndrome caused by mutation in ERCC1, COFS4, ERCC1 COFS syndrome — per MONDO

Also identified as

• DOID 0080914 per MONDO
• MESH C565184 per MONDO
• NCIT C173104 per MONDO
• OMIM 610758 per MONDO
• UMLS C1853100 per MONDO