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glycogen storage disease IXa
Summary
- Synonym
-
- GSD type 9A
- GSD type IXa
- GSD9A
- glycogen storage disease type 9A
- glycogen storage disease type IXa
- glycogenosis type 9A
- glycogenosis type 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.
- Super Class
- X-linked recessive disease glycogen storage disease IX
External Links
- Disease Ontology
- DOID:0111042
- Mondo Disease Ontology
- OMIM
Related Genes
