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ONTOLOGY REPORT - ANNOTATIONS


Term:glycogen storage disease IXd
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Accession:DOID:0111040 term browser browse the term
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. (DO)
Synonyms:exact_synonym: GSD IXD;   GSD due to muscle phosphorylase kinase deficiency;   GSD type 9D;   GSD type 9E;   GSD type IXd;   GSD type IXe;   GSD9D;   Muscle Glycogenosis, X-Linked;   Muscle Phosphorylase Kinase Deficiency;   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
 primary_id: MESH:C564485
 alt_id: OMIM:300559;   RDO:0013431
 xref: ORDO:715
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glycogen storage disease IXd term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15608
    Developmental Diseases 8985
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7801
        genetic disease 7294
          monogenic disease 4989
            X-linked monogenic disease 854
              X-linked recessive disease 212
                glycogen storage disease IXd 1
Path 2
Term Annotations click to browse term
  disease 15608
    Developmental Diseases 8985
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7801
        genetic disease 7294
          inherited metabolic disorder 1908
            carbohydrate metabolic disorder 327
              glycogen metabolism disorder 40
                glycogen storage disease 40
                  glycogen storage disease IX 4
                    glycogen storage disease IXd 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.