Search Ontology:
Human Disease
glycogen storage disease X
- Term ID
- DOID:0061285
- 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. https://pubmed.ncbi.nlm.nih.gov/6262916/
- References
- Ontology
- Human Disease ( DOID:0061285 )
Other Pages
Genes Involved
Zebrafish Models