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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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
ClinVar
OMIM
PMID:20357282 PMID:24033266 PMID:25272951 PMID:25741868 PMID:26652229 More... NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Pathological Conditions, Signs and Symptoms 10360
      Pathologic Processes 6851
        Muscle Weakness 97
          Polyglucosan Body Myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          inherited metabolic disorder 2661
            carbohydrate metabolic disorder 532
              glycogen metabolism disorder 109
                glycogen storage disease 109
                  Polyglucosan Body Myopathy 2 1
paths to the root