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ONTOLOGY REPORT - ANNOTATIONS


Term:lethal congenital glycogen storage disease of heart
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Accession:DOID:0090101 term browser browse the term
Definition:A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. (DO)
Synonyms:exact_synonym: fatal congenital hypertrophic cardiomyopathy due to GSD;   fatal congenital hypertrophic cardiomyopathy due to glycogenosis;   fatal congenital nonlysosomal cardiac glycogenosis;   glycogen storage disease of heart;   phosphorylase kinase deficiency of heart
 primary_id: MESH:C564888
 alt_id: OMIM:261740;   RDO:0013702
 xref: ORDO:439854
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lethal congenital glycogen storage disease of heart term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15043
    disease of anatomical entity 14177
      cardiovascular system disease 4072
        heart disease 2237
          lethal congenital glycogen storage disease of heart 1
Path 2
Term Annotations click to browse term
  disease 15043
    Developmental Diseases 7871
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7202
        genetic disease 6577
          inherited metabolic disorder 1784
            carbohydrate metabolic disorder 290
              glycogen metabolism disorder 41
                glycogen storage disease 41
                  lethal congenital glycogen storage disease of heart 1
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