Cardiofaciocutaneous syndrome 3

Definition

Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.

Also known as cardiofaciocutaneous syndrome 3, cardiofaciocutaneous syndrome caused by mutation in MAP2K1, cardiofaciocutaneous syndrome type 3, MAP2K1 cardiofaciocutaneous syndrome — per MONDO

Also identified as

• DOID 0111462 per MONDO
• OMIM 615279 per MONDO
• UMLS C3809006 per MONDO