Term Name: | glycogen storage disease VIII |
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Synonyms: | Glycogen storage disease 8, glycogen storage disease type VIII, glycogenosis type VIII, hepatic glycogen phosphorylase kinase deficiency |
Definition: | A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity. |
Ontology: | Human Disease [DOID:2751] ( DOID:2751 ) |