glycogen storage disease IXa

Summary

DOID:0111042 - glycogen storage disease IXa

Disease Ontology Definition:A glycogen storage disease IX characterized by 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 X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.

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

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

: phka2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010598 - glycogen storage disease IXa1

MONDO:0010598 - glycogen storage disease IXa1

MIM:

MIM:306000 - GLYCOGEN STORAGE DISEASE IXa1; GSD9A1

MIM:306000 - GLYCOGEN STORAGE DISEASE IXa1; GSD9A1

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

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

Parent(s): glycogen storage disease IX (is_a), X-linked recessive disease (is_a)