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DO Term : glycogen storage disease V [DOID:2746] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • Glycogen storage disease 5,
  • GARD:6528,
  • 232600,
  • ORDO:368,
  • SNOMEDCT_US_2023_03_01:55912009,
  • glycogen storage disease type V,
  • UMLS_CUI:C0017924,
  • ICD10CM:E74.04,
  • OMIM:232600,
  • myophosphorylase deficiency,
  • MESH:D006012,
  • Glycogen storage disease, type V,
  • McArdle's disease,
  • NCI:C84738
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