Term Name: | glycogen storage disease IXa |
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Synonyms: | glycogen storage disease type 9A, glycogen storage disease type IXa, glycogenosis type 9A, glycogenosis type IXa, GSD type 9A, GSD type IXa, GSD9A |
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. |
Ontology: | Human Disease [DOID:0111042] ( DOID:0111042 ) |