Lethal congenital glycogen storage disease of heart

Definition

Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.

Also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis, fatal congenital hypertrophic cardiomyopathy due to GSD, glycogen storage disease caused by mutation in PRKAG2, phosphorylase kinase deficiency of heart, PRKAG2 glycogen storage disease — per MONDO

Also identified as

• DOID 0090101 per MONDO
• MESH C564888 per MONDO
• OMIM 261740 per MONDO
• Orphanet 439854 per MONDO
• UMLS C1849813 per MONDO