OBO ID: DOID:0111042 |
Term Name: | glycogen storage disease IXa | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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 ) |
OTHER glycogen storage disease IXa PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.