Cardiofaciocutaneous syndrome 4

Definition

Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.

Also known as cardiofaciocutaneous syndrome 4, cardiofaciocutaneous syndrome caused by mutation in MAP2K2, cardiofaciocutaneous syndrome type 4, MAP2K2 cardiofaciocutaneous syndrome — per MONDO

Also identified as

• DOID 0111463 per MONDO
• OMIM 615280 per MONDO
• UMLS C3809007 per MONDO