Summary Literature (0)

DOID:0111040 - glycogen storage disease IXd

Disease Ontology Definition:A glycogen storage disease IX 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.

Synonyms: GSD IXd, GSD due to muscle phosphorylase kinase deficiency, GSD type 9D, GSD type 9E, GSD type IXd, GSD type IXe, GSD9D, X-linked muscke glycogenosis, 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, muscle phosphorylase kinase deficiency,

Echinobase Genes :


OMIM:

MIM:300559 - glycogen storage disease, type ixd; gsd9d

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee