About   Help   FAQ
Disease Ontology Browser
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.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory