Term Name: glycogen storage disease V
Synonyms: Glycogen storage disease 5, 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.
Ontology: Human Disease [DOID:2746]   ( DOID:2746 )

Relationships
is a type of: autosomal recessive disease glycogen storage disease