Term Name: | glycogen storage disease V |
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Synonyms: | Glycogen storage disease 5, glycogen storage disease type V, Glycogen storage disease, type V, McArdle's disease, myophosphorylase deficiency |
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. |
Ontology: | Human Disease [DOID:2746] ( DOID:2746 ) |