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ONTOLOGY REPORT - ANNOTATIONS


Term:POLYGLUCOSAN BODY MYOPATHY 2
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Accession:DOID:9002303 term browser browse the term
Definition:An autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. (OMIM)
Synonyms:exact_synonym: PGBM2
 primary_id: OMIM:616199;   RDO:9001324
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POLYGLUCOSAN BODY MYOPATHY 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gyg1 glycogenin 1 JBrowse link 2 104,916,734 104,958,219 RGD:8554872
RGD:7240710

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Path 1
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  disease 15036
    Pathological Conditions, Signs and Symptoms 7830
      Pathologic Processes 5018
        Muscle Weakness 71
          POLYGLUCOSAN BODY MYOPATHY 2 1
Path 2
Term Annotations click to browse term
  disease 15036
    Developmental Diseases 7870
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7198
        genetic disease 6569
          inherited metabolic disorder 1786
            carbohydrate metabolic disorder 291
              glycogen metabolism disorder 41
                glycogen storage disease 41
                  POLYGLUCOSAN BODY MYOPATHY 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.