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 V ID (Ontology) DOID:2746 (Human Disease)
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.
Also Known As "Glycogen storage disease 5" ; "glycogen storage disease type V" ; "Glycogen storage disease, type V" (for all, see Synonyms field below)
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 Genes
 glycogen storage disease V       1
 for disease ribbon | glycogen storage disease V       1
 model of | glycogen storage disease V       1
Spanning Tree (Parents/Children)
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glycogen metabolism disorder
 |__glycogen storage disease_____
autosomal genetic disease        |
 |__autosomal recessive disease__|
                                 glycogen storage disease V  1 rec.
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Is a autosomal recessive disease
glycogen storage disease
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Synonyms
  • "Glycogen storage disease 5" EXACT
    "glycogen storage disease type V" EXACT
    "Glycogen storage disease, type V" EXACT
    "McArdle's disease" EXACT
    "myophosphorylase deficiency" EXACT
Secondary IDs
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GARD:6528
ICD10CM:E74.04
MESH:D006012
MIM:232600
NCI:C84738
ORDO:368
SNOMEDCT_US_2023_03_01:55912009
UMLS_CUI:C0017924