|
DOID:2751 - glycogen storage disease VIII
Disease Ontology 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.
Synonyms: glycogen storage disease type VIII, Glycogen storage disease type VIII (disorder), glycogenosis type VIII, hepatic glycogen phosphorylase kinase deficiency (disorder), Glycogen storage disease 8, hepatic glycogen phosphorylase kinase deficiency
Echinobase Genes
:
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee