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glycogen storage disease IXd
Summary
- Synonym
-
- 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
- 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.
- Super Class
- X-linked recessive disease glycogen storage disease IX
External Links
- Disease Ontology
- DOID:0111040
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
