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Metadata
ID DOID:0111042
Name glycogen storage disease IXa
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.
https://www.ncbi.nlm.nih.gov/pubmed/2303074, https://www.ncbi.nlm.nih.gov/pubmed/7711737
Xrefs

ICD10CM:E74.0

OMIM:306000

Synonyms

glycogen storage disease type 9A [EXACT]

glycogen storage disease type IXa [EXACT]

glycogenosis type 9A [EXACT]

glycogenosis type IXa [EXACT]

GSD type 9A [EXACT]

GSD type IXa [EXACT]

GSD9A [EXACT]

Parent Relationships

is_a glycogen storage disease IX

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