Van Maldergem syndrome 1

Definition

Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.

Also known as DCHS1 van Maldergem syndrome, van Maldergem syndrome 1, van Maldergem syndrome caused by mutation in DCHS1, Van Maldergem syndrome type 1 — per MONDO

Also identified as

• DOID 0080585 per MONDO
• OMIM 601390 per MONDO
• UMLS C4551950 per MONDO