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Disease Ontology Browser
glycogen storage disease V (DOID:2746)
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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.

Disease References using Mouse Models (4)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory