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ONTOLOGY REPORT - ANNOTATIONS


Term:Glycogen Storage Disease IB
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Accession:DOID:9000306 term browser browse the term
Synonyms:exact_synonym: GSD Ib;   GSD1B;   Glucose-6-Phosphate Transport Defect;   Glycogen Storage Disease Type IB
 primary_id: MESH:C562594;   RDO:0012242
 alt_id: OMIM:232220
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Glycogen Storage Disease IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pc glucose-6-phosphatase, catalytic subunit JBrowse link 10 89,286,009 89,296,213 RGD:8554872
G Slc37a4 solute carrier family 37 member 4 JBrowse link 8 48,716,914 48,723,024 RGD:1599000
RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1780
          carbohydrate metabolic disorder 289
            glycogen storage disease 41
              glycogen storage disease I 2
                Glycogen Storage Disease IB 2
Path 2
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          inherited metabolic disorder 1780
            carbohydrate metabolic disorder 289
              glycogen metabolism disorder 41
                glycogen storage disease 41
                  glycogen storage disease I 2
                    Glycogen Storage Disease IB 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.