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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.

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Polyglucosan Body Myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gyg1 glycogenin 1 ISO ClinVar Annotator: match by OMIM:616199
ClinVar Annotator: match by term: Polyglucosan body myopathy 2
PMID:20357282, PMID:24033266, PMID:25272951, PMID:25741868, PMID:26652229, PMID:27718144, PMID:28453664, PMID:28492532, PMID:29143313, PMID:29264399, PMID:30311386 NCBI chr 2:104,916,734...104,958,219
Ensembl chr 2:104,916,738...104,958,034
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Pathologic Processes 6130
        Muscle Weakness 100
          Polyglucosan Body Myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              glycogen metabolism disorder 79
                glycogen storage disease 79
                  Polyglucosan Body Myopathy 2 1
paths to the root


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