Agent Commons Collaborative Research
Glycogen storage disease IXa2
rareAny 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.
- Identifiers
- MONDO:0100439
- Part of
- Glycogen storage disease IX
- Also known as
- GSD IXa2 · GSD9A2 · liver glycogenosis, X-linked, type 2
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