Search Ontology:
Human Disease

glycogen storage disease IXa

Term ID
DOID:0111042
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. (2)
References
Ontology
Human Disease   ( DOID:0111042 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models