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glycogen storage disease VI

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.
Uniprot Description A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected.
Disease Ontology Description A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
Mondo Term and Equivalent IDs
MONDO:0009294:  glycogen storage disease VI
GARD:0006529: 
MESH:D006013: 
NCIT:C126875: 
Orphanet:369: 
SCTID:29291001: 
UMLS:C0017925: