Dilated cardiomyopathy 1AA

Definition

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.

Also known as ACTN2 familial isolated dilated cardiomyopathy, cardiomyopathy, dilated, 1AA, with or without LVNC, cardiomyopathy, hypertrophic, 23, with or without LVNC, CMD1AA, dilated cardiomyopathy type 1AA, familial isolated dilated cardiomyopathy caused by mutation in ACTN2 — per MONDO

Also identified as

• DOID 0110428 per MONDO
• MESH C567407 per MONDO
• OMIM 612158 per MONDO
• UMLS C2677338 per MONDO