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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,
Xenbase Genes
:
phka2
| MONDO:0010598 - glycogen storage disease IXa1 |
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)