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DOID:0111040 - glycogen storage disease IXd
Disease Ontology 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.
Synonyms: glycogenosis due to muscle phosphorylase kinase deficiency, glycogenosis type 9D, glycogenosis type 9E, glycogenosis type IXd, glycogenosis type IXe, 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, GSD9D, GSD due to muscle phosphorylase kinase deficiency, GSD IXd, GSD type 9D, GSD type 9E, GSD type IXd, GSD type IXe, muscle phosphorylase kinase deficiency, X-linked muscke glycogenosis
Xenbase Genes
:
phka1
| MONDO:0010362 - endoskeleton |
| MIM:300559 - GLYCOGEN STORAGE DISEASE IXd; GSD9D |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee