Search Ontology:
Human Disease

glycogen storage disease IXc

Term ID
DOID:0111043
Synonyms
  • glycogen storage disease type 9C
  • glycogen storage disease type IXc
  • glycogenosis type 9C
  • glycogenosis type IXc
  • GSD type 9C
  • GSD type IXc
  • GSD9C
Definition
A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. (2)
References
Ontology
Human Disease   ( DOID:0111043 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
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.