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glycogen storage disease I

Go to external page http://purl.obolibrary.org/obo/DOID_2749

A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. [ http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007646 ]

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glycogen storage disease I

Synonyms
  • Glycogen storage disease, type I
  • deficiency of glucose-6-phosphatase
  • glycogen storage disease type I
  • glycogenosis type I
  • von Gierke disease
  • von Gierke's disease
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id

DOID:2749