glycogen storage disease VII

Summary

DOID:11721 - glycogen storage disease VII

Disease Ontology Definition:A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.

Synonyms: Glycogen storage disease 7, glycogen storage disease type VII, Glycogen storage disease, type VII, Glycogen storage disease, type VII (disorder), Muscle phosphofructokinase deficiency, Muscle phosphofructokinase deficiency (disorder), phosphofructokinase myopathy

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

: pfkm

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009295 - glycogen storage disease VII

MONDO:0009295 - glycogen storage disease VII

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

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

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