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DO Term : glycogen storage disease III [DOID:2748] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
  • synonyms:
  • deficiency of dextrin,
  • Glycogen storage disease, type III,
  • OMIM:232400,
  • MESH:D006010,
  • NCI:C84736,
  • deficiency of debranching enzyme,
  • ICD10CM:E74.03,
  • SNOMEDCT_US_2023_03_01:66937008,
  • amylo 1,6 glucosidase deficiency,
  • 232400,
  • UMLS_CUI:C0017922,
  • Glycogen storage disease 3
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