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glycogen storage disease VII (DOID:11721)
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Synonyms: Glycogen storage disease 7; glycogen storage disease type VII; Glycogen storage disease, type VII; Muscle phosphofructokinase deficiency; phosphofructokinase myopathy
Alt IDs: OMIM:232800, ICD10CM:E74.09, MESH:D006014, NCI:C118437, UMLS_CUI:C0017926
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.

Disease References using Mouse Models (2)
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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12/17/2024
MGI 6.24 		The Jackson Laboratory