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Disease Ontology Browser
glycogen storage disease IXa (DOID:0111042)
Synonyms: glycogen storage disease type 9A; glycogen storage disease type IXa; glycogenosis type 9A; glycogenosis type IXa; GSD9A; GSD type 9A; GSD type IXa
Alt IDs: OMIM:306000, ICD10CM:E74.0
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/12/2017
MGI 6.10
The Jackson Laboratory