OBO ID: DOID:2746
Term Name: glycogen storage disease V Search Ontology:
Synonyms:
  • 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. https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/
References:
  • GARD:6528
  • ICD10CM:E74.04
  • MESH:D006012
  • NCI:C84738
  • OMIM:232600
  • ORDO:368
  • SNOMEDCT_US_2022_03_01:55912009
  • UMLS_CUI:C0017924
Ontology: Human Disease   (DOID:2746)
OTHER glycogen storage disease V PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PYGM McArdle disease 232600
PHENOTYPE No data available

CITATIONS (1)