Search Ontology:
Human Disease

glycogen storage disease VII

Term ID
DOID:11721
Synonyms
  • Glycogen storage disease 7
  • glycogen storage disease type VII
  • Glycogen storage disease, type VII
  • Muscle phosphofructokinase deficiency
  • phosphofructokinase myopathy
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. https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/
References
Ontology
Human Disease   ( DOID:11721 )
Relationships
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Genes Involved
Zebrafish Models