glycogen storage disease V (DOID:2746)
Alliance: disease page
Synonyms: Glycogen storage disease 5; glycogen storage disease type V; Glycogen storage disease, type V; McArdle's disease; myophosphorylase deficiency
Alt IDs: OMIM:232600, ICD10CM:E74.04, MESH:D006012, NCI:C84738, ORDO:368, UMLS_CUI:C0017924
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.