glycogen storage disease VI

Summary

DOID:2754 - glycogen storage disease VI

Disease Ontology Definition: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.

Synonyms: Glycogen storage disease 6, glycogen storage disease type VI, hepatic glycogen phosphorylase deficiency, hepatic glycogen phosphorylase deficiency (disorder), hepatophosphorylase deficiency glycogenosis, Hers' disease

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pygl

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009294 - glycogen storage disease VI

MONDO:0009294 - glycogen storage disease VI

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), glycogen storage disease (is_a)