Search Ontology:
Human Disease

glycogen storage disease IXd

Term ID
DOID:0111040
Synonyms
  • glycogen storage disease due to muscle phosphorylase kinase deficiency
  • glycogen storage disease type 9D
  • glycogen storage disease type 9E
  • glycogen storage disease type IXd
  • glycogen storage disease type IXe
  • glycogenosis due to muscle phosphorylase kinase deficiency
  • glycogenosis type 9D
  • glycogenosis type 9E
  • glycogenosis type IXd
  • glycogenosis type IXe
  • GSD due to muscle phosphorylase kinase deficiency
  • GSD IXd
  • GSD type 9D
  • GSD type 9E
  • GSD type IXd
  • GSD type IXe
  • GSD9D
  • muscle phosphorylase kinase deficiency
  • X-linked muscke glycogenosis
Definition
A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. (2)
References
Ontology
Human Disease   ( DOID:0111040 )
Relationships
is a type of
disjoint_from
Other Pages
Genes Involved
Zebrafish Models