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DO Term : glycogen storage disease II [DOID:2752] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • deficiency of maltase,
  • MESH:D006009,
  • 232300,
  • Pompe's disease,
  • GARD:5714,
  • Lysosomal alpha-1,4-glucosidase deficiency,
  • Generalized glycogenosis,
  • UMLS_CUI:C0017921,
  • glycogen storage disease type II,
  • ICD10CM:E74.02,
  • OMIM:232300,
  • deficiency of glucoamylase,
  • Glycogen storage disease, type II,
  • NCI:C84734,
  • SNOMEDCT_US_2023_03_01:237967002,
  • Glycogenosis, type 2,
  • acid maltase deficiency,
  • Glycogen storage disease 2
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