FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term glycogen storage disease VII ID (Ontology) DOID:11721 (Human Disease)
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.
Also Known As "Glycogen storage disease 7" ; "glycogen storage disease type VII" ; "Glycogen storage disease, type VII" (for all, see Synonyms field below)
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 Genes
 glycogen storage disease VII       1
 for disease ribbon | glycogen storage disease VII       1
 model of | glycogen storage disease VII       1
Spanning Tree (Parents/Children)
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glycogen metabolism disorder
 |__glycogen storage disease_____
autosomal genetic disease        |
 |__autosomal recessive disease__|
                                 glycogen storage disease VII  1 rec.
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Is a autosomal recessive disease
glycogen storage disease
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Synonyms
  • "Glycogen storage disease 7" EXACT
    "glycogen storage disease type VII" EXACT
    "Glycogen storage disease, type VII" EXACT
    "Muscle phosphofructokinase deficiency" EXACT
    "phosphofructokinase myopathy" EXACT
Secondary IDs
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ICD10CM:E74.09
MESH:D006014
MIM:232800
NCI:C118437
SNOMEDCT_US_2023_03_01:89597008
UMLS_CUI:C0017926