|OBO ID: DOID:2746|
|Term Name:||glycogen storage disease V||Search Ontology:|
|Definition:||A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/|
|Ontology:||Human Disease (DOID:2746)|
|is a type of:||
OTHER glycogen storage disease V PAGES
PHENOTYPE No data available
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