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Disease Ontology Browser
glycogen storage disease IXd (DOID:0111040)
Alliance: disease page
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; 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
Alt IDs: OMIM:300559, ICD10CM:E74.0, ORDO:715
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory