Preferred Name |
Glycogen Storage Disease |
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Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Glycogen_Storage_Disease |
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DEFINITION |
An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. |
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isDefinedBy |
An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. |
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label |
Glycogen Storage Disease |
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prefixIRI |
Thesaurus:Glycogen_Storage_Disease |
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prefLabel |
Glycogen Storage Disease |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Errors_of_Metabolism |