glycogen storage disease II

created [InstanceEdit:5357603] D'Eustachio, Peter, 2014-03-24
databaseName DOID
dbId 5357596
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.
displayName glycogen storage disease II
identifier 2752
name
  • glycogen storage disease II
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • Lysosomal alpha-1,4-glucosidase deficiency (disorder)
  • deficiency of glucoamylase
  • glycogen storage disease type II
  • acid maltase deficiency
  • deficiency of maltase
  • Glycogen storage disease, type II (disorder)
  • Pompe's disease
  • Generalized glycogenosis (disorder)
  • Glycogenosis, type 2
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:2752
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