glycogen storage disease V

Summary

DOID:2746 - glycogen storage disease V

Disease Ontology 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.

Synonyms: glycogen storage disease type V, Glycogen storage disease, type V (disorder), Glycogen storage disease, type V, myophosphorylase deficiency, Glycogen storage disease 5, McArdle's disease

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pygm

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009293 - glycogen storage disease V

MONDO:0009293 - glycogen storage disease V

MIM:

MIM:232600 - GLYCOGEN STORAGE DISEASE V; GSD5

MIM:232600 - GLYCOGEN STORAGE DISEASE V; GSD5

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal recessive disease (is_a), glycogen storage disease (is_a)