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DO Term : glycogen storage disease IXd [DOID:0111040] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • ORDO:715,
  • glycogen storage disease type IXd,
  • OMIM:300559,
  • glycogen storage disease type 9D,
  • 300559,
  • glycogen storage disease type IXe,
  • muscle phosphorylase kinase deficiency,
  • glycogenosis type IXe,
  • glycogen storage disease type 9E,
  • GSD type IXd,
  • GSD IXd,
  • GSD type IXe,
  • glycogenosis due to muscle phosphorylase kinase deficiency,
  • GSD9D,
  • glycogenosis type 9E,
  • glycogen storage disease due to muscle phosphorylase kinase deficiency,
  • X-linked muscke glycogenosis,
  • GSD due to muscle phosphorylase kinase deficiency,
  • ICD10CM:E74.0,
  • GSD type 9D,
  • glycogenosis type IXd,
  • glycogenosis type 9D,
  • GSD type 9E
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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