Adams-Oliver syndrome 5

Definition

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.

Also known as Adams-Oliver syndrome 5, Adams-Oliver syndrome caused by mutation in NOTCH1, Adams-Oliver syndrome type 5, AOS5 — per MONDO

Also identified as

• OMIM 616028 per MONDO
• UMLS C4014970 per MONDO