Hypoplastic left heart syndrome 2

Definition

Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.

Also known as hypoplastic left heart syndrome 2, hypoplastic left heart syndrome caused by mutation in NKX2-5, hypoplastic left heart syndrome type 2, NKX2-5 hypoplastic left heart syndrome — per MONDO

Also identified as

• OMIM 614435 per MONDO
• UMLS C3280795 per MONDO