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Details on Person glycogen storage disease

Class:IdDisease:3229130
_displayNameglycogen storage disease
_timestamp2013-03-26 13:47:38
created[InstanceEdit:3229131] D'Eustachio, P, 2013-03-26
definitionA carbohydrate metabolic disease that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
identifier2747
modified[InstanceEdit:3229137] D'Eustachio, P, 2013-03-26
nameglycogen storage disease
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymglycogenosis
(disease)[DefinedSet:3791352] EPM2A mutants [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3791357] EPM2A P301L [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3791361] EPM2A T194I [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3791363] EPM2A F84L [cytosol] [Homo sapiens]
[DefinedSet:3797212] NHLRC1 mutants [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3797218] NHLRC1 F33S [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3797231] NHLRC1 C26S [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3828056] GYS1 R462* [cytosol] [Homo sapiens]
[DefinedSet:3858509] GYS2 mutants [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:3858519] GYS2 H446D [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by glycogen storage disease (3229130)