Cockayne syndrome type 1

Definition

Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.

Also known as Cockayne syndrome A, Cockayne syndrome caused by mutation in ERCC8, Cockayne syndrome type 1, Cockayne syndrome type a, Cockayne syndrome type I, Cockayne syndrome, type A, ERCC8 Cockayne syndrome — per MONDO

Also identified as

• DOID 0080907 per MONDO
• NCIT C135725 per MONDO
• OMIM 216400 per MONDO
• Orphanet 90321 per MONDO
• UMLS C0751039 per MONDO