Glycogen storage disease IXc

Definition

A liver PhK deficiency caused by variants in the PHKG2 gene

Also known as glycogen storage disease caused by mutation in PHKG2, glycogen storage disease IXc, glycogen storage disease type IXc, GSD type 9C, GSD type IXc, GSD9C, PHKG2 glycogen storage disease, PHKG2-related glycogen storage disease type IX — per MONDO

Also identified as

• DOID 0111043 per MONDO
• MESH C567809 per MONDO
• OMIM 613027 per MONDO
• UMLS C2751643 per MONDO