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 ID (Ontology) DOID:2747 (Human Disease)
Definition A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
Also Known As "glycogenosis"
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  carbohydrate metabolic disorder
   |__glycogen metabolism disorder
       |__glycogen storage disease  13 rec.
           |__glycogen storage disease I 2 rec.
           |   |__glycogen storage disease Ia 1 rec.
           |   |__glycogen storage disease Ib 1 rec.
           |   |__glycogen storage disease Ic 1 rec.
           |__glycogen storage disease II 1 rec.
           |__glycogen storage disease III 2 rec.
           |__glycogen storage disease IV 1 rec.
           |__glycogen storage disease IX 3 rec.
           |   |__glycogen storage disease IXa 1 rec.
           |   |__glycogen storage disease IXb 1 rec.
           |   |__glycogen storage disease IXc 1 rec.
           |   |__glycogen storage disease IXd 1 rec.
           |__glycogen storage disease V 1 rec.
           |__glycogen storage disease VI 1 rec.
           |__glycogen storage disease VII 1 rec.
           |__glycogen storage disease VIII
           |__glycogen storage disease XV 1 rec.
           |__lethal congenital glycogen storage disease of heart 1 rec.
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Is a glycogen metabolism disorder
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Synonyms
  • "glycogenoses" NARROW
    "glycogenosis" EXACT
Secondary IDs
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ICD10CM:E74.0
ICD9CM:271.0
MESH:D006008
NCI:C61272
SNOMEDCT_US_2023_03_01:267498002
UMLS_CUI:C0017919