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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;   RDO:0013694
For additional species annotation, visit the Alliance of Genome Resources.


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Polyglucosan Body Disease, Adult Form term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Adult Polyglucosan Body Disease
ClinVar Annotator: match by OMIM:263570
ClinVar Annotator: match by term: Polyglucosan body disease, adult
ClinVar Annotator: match by term: Adult polyglucosan body neuropathy
OMIM
ClinVar
PMID:1375445, PMID:8247964, PMID:8613547, PMID:9851430, PMID:10384399, PMID:10545044, PMID:10762170, PMID:11949934, PMID:12874416, PMID:14755501, PMID:15019703, PMID:15452297, PMID:15520786, PMID:16528737, PMID:17662246, PMID:19813197, PMID:20058079, PMID:20479904, PMID:20655781, PMID:22106711, PMID:22305237, PMID:23034915, PMID:23218673, PMID:23607684, PMID:24033266, PMID:24082139, PMID:24248152, PMID:25133958, PMID:25489661, PMID:25665141, PMID:25741868, PMID:26166723, PMID:26199317, PMID:26385640, PMID:26670585, PMID:26789422, PMID:26886200, PMID:27107456, PMID:28492532, PMID:28507268, PMID:28716262, PMID:30293248, PMID:30311386, PMID:30569318, PMID:31207142, PMID:31209396, PMID:31319225 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        Polyglucosan Body Disease, Adult Form 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 Disease, Adult Form 1
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.