Glycogen storage disease IXa2

Definition

Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.

Also known as GSD IXa2, GSD9A2, liver glycogenosis, X-linked, type 2 — per MONDO

Also identified as

• UMLS C2748941 per MONDO