FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term glycogen storage disease IXd ID (Ontology) DOID:0111040 (Human Disease)
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.
Also Known As "glycogen storage disease due to muscle phosphorylase kinase deficiency" ; "glycogen storage disease type 9D" ; "glycogen storage disease type 9E" (for all, see Synonyms field below)
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 Genes
 glycogen storage disease IXd       1
 for disease ribbon | glycogen storage disease IXd       1
 model of | glycogen storage disease IXd       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease___
glycogen storage disease         |
 |__glycogen storage disease IX__|
                                 glycogen storage disease IXd  1 rec.
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Is a glycogen storage disease IX
X-linked recessive disease
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Synonyms
  • "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT
    "glycogen storage disease type 9D" EXACT
    "glycogen storage disease type 9E" EXACT
    "glycogen storage disease type IXd" EXACT
    "glycogen storage disease type IXe" EXACT
    "glycogenosis due to muscle phosphorylase kinase deficiency" EXACT
    "glycogenosis type 9D" EXACT
    "glycogenosis type 9E" EXACT
    "glycogenosis type IXd" EXACT
    "glycogenosis type IXe" EXACT
    "GSD due to muscle phosphorylase kinase deficiency" EXACT
    "GSD IXd" EXACT OMO:0003012
    "GSD type 9D" EXACT
    "GSD type 9E" EXACT
    "GSD type IXd" EXACT
    "GSD type IXe" EXACT
    "GSD9D" EXACT OMO:0003012
    "muscle phosphorylase kinase deficiency" EXACT
    "X-linked muscke glycogenosis" EXACT
Secondary IDs
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ICD10CM:E74.0
MIM:300559
ORDO:715