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

• ICD10CM:E74.0
• OMIM:300559
• ORDO:715

Ontology

Human Disease   ( DOID:0111040 )