Blepharocheilodontic syndrome 1

Definition

Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.

Also known as blepharo-cheilo-odontic syndrome caused by mutation in CDH1, blepharocheilodontic syndrome 1, CDH1 blepharo-cheilo-odontic syndrome — per MONDO

Also identified as

• DOID 0080345 per MONDO
• OMIM 119580 per MONDO
• UMLS C4551988 per MONDO