OBO ID: DOID:0111042
Term Name: glycogen storage disease IXa Search Ontology:
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 glycogen storage disease IXa PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PHKA2 Glycogen storage disease, type IXa2 306000
Glycogen storage disease, type IXa1 306000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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