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 II ID (Ontology) DOID:2752 (Human Disease)
Definition A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
Also Known As "acid maltase deficiency" ; "deficiency of glucoamylase" ; "deficiency of maltase" (for all, see Synonyms field below)
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 Genes
 glycogen storage disease II       1
 for disease ribbon | glycogen storage disease II       1
 model of | glycogen storage disease II       1
Spanning Tree (Parents/Children)
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glycogen metabolism disorder
 |__glycogen storage disease_____
autosomal genetic disease        |
 |__autosomal recessive disease__|
                                 glycogen storage disease II  1 rec.
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Is a autosomal recessive disease
glycogen storage disease
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Synonyms
  • "acid maltase deficiency" EXACT
    "deficiency of glucoamylase" EXACT
    "deficiency of maltase" EXACT
    "Generalized glycogenosis" EXACT
    "Glycogen storage disease 2" EXACT
    "glycogen storage disease type II" EXACT
    "Glycogen storage disease, type II" EXACT
    "Glycogenosis, type 2" EXACT
    "Lysosomal alpha-1,4-glucosidase deficiency" EXACT
    "Pompe's disease" EXACT
Secondary IDs
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GARD:5714
ICD10CM:E74.02
MESH:D006009
MIM:232300
NCI:C84734
SNOMEDCT_US_2023_03_01:237967002
UMLS_CUI:C0017921