| Term Name: | glycogen storage disease X |
|---|---|
| Synonyms: | |
| Definition: | A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the PGAM2 gene, which encodes muscle phosphoglycerate mutase, on chromosome 7p13. |
| Ontology: | Human Disease [DOID:0061285] ( DOID:0061285 ) |