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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:Glycoprotein Storage Disease
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Accession:DOID:9006475 term browser browse the term
Synonyms:primary_id: MESH:C565538
 alt_id: MIM:232900


show annotations for term's descendants           Sort by:
Glycoprotein Storage Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Glycoprotein storage disease ClinVar PMID:19588081 PMID:22644586 PMID:24444888 PMID:25526786 PMID:25741868 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        inherited metabolic disorder 6611
          Glycoprotein Storage Disease 1
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          inherited metabolic disorder 6611
            Glycoprotein Storage Disease 1
paths to the root