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ONTOLOGY REPORT - ANNOTATIONS


Term:glycogen storage disease IXa
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Accession:DOID:0111042 term browser browse the term
Definition:A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: GSD IXA2;   GSD type 9A;   GSD type IXa;   GSD9A;   GSD9A1;   GSD9A2;   XLG1;   XLG2;   glycogen storage disease IXA2;   glycogen storage disease IXa1;   glycogen storage disease type 9A;   glycogen storage disease type IXA1;   glycogen storage disease type IXA2;   glycogen storage disease type IXa;   glycogenosis type 9A;   glycogenosis type IXa;   liver glycogenosis, X-linked, type I;   liver glycogenosis, X-linked, type II
 related_synonym: GSD VIII (formerly);   GSD8 (formerly);   glycogen storage disease VIII (formerly)
 primary_id: OMIM:306000
 alt_id: MESH:C564421;   MESH:C567579
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glycogen storage disease IXa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phka2 phosphorylase kinase regulatory subunit alpha 2 JBrowse link X 35,970,650 36,926,616 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            X-linked monogenic disease 854
              X-linked recessive disease 212
                glycogen storage disease IXa 1
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          inherited metabolic disorder 1909
            carbohydrate metabolic disorder 327
              glycogen metabolism disorder 40
                glycogen storage disease 40
                  glycogen storage disease IX 4
                    glycogen storage disease IXa 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.