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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;   RDO:0014146
For additional species annotation, visit the Alliance of Genome Resources.



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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:22644586 PMID:24444888 PMID:25526786 PMID:30155607 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          Glycoprotein Storage Disease 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          inherited metabolic disorder 2633
            Glycoprotein Storage Disease 1
paths to the root