Summary Literature (0)

DOID:0111042 - glycogen storage disease IXa

Disease Ontology Definition:A glycogen storage disease IX characterized by X-linked inheritance of hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has material_basis_in mutation in the PHKA2 gene on chromosome Xp22.

Synonyms: GSD type 9A, GSD type IXa, GSD9A, glycogen storage disease type 9A, glycogen storage disease type IXa, glycogenosis type 9A, glycogenosis type IXa,

Echinobase Genes :


OMIM:

MIM:306000 - glycogen storage disease ixa1; gsd9a1

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

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