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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 Disease, Adult Form
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Accession:DOID:9007497 term browser browse the term
Synonyms:exact_synonym: APBD;   APBN;   Adult Polyglucosan Body Disease;   POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM;   adult polyglucosan body neuropathy
 broad_synonym: GBE1-RELATED DISORDERS;   GBE1-related disorder
 primary_id: MESH:C564878
 alt_id: OMIM:263570
 xref: MONDO:0009897



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        Polyglucosan Body Disease, Adult Form 1
Path 2
Term Annotations click to browse term
  disease 21142
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          inherited metabolic disorder 6205
            carbohydrate metabolic disorder 3264
              glycogen metabolism disorder 264
                glycogen storage disease 264
                  Polyglucosan Body Disease, Adult Form 1
paths to the root