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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:Cardiac Form of Generalized Glycogenosis
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Accession:DOID:9001828 term browser browse the term
Synonyms:exact_synonym: cardiomegalia glycogenica diffusa;   generalized glycogenosis, cardiac form
 primary_id: MESH:C536839
 alt_id: RDO:0002540

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Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:72,004,087...72,061,889 JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa | ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM ClinVar PMID:2111708 PMID:2203258 PMID:2510307 PMID:7668832 PMID:7695647 More... NCBI chr16:72,064,315...72,083,293
Ensembl chr16:72,067,267...72,083,349 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15272
    Nutritional and Metabolic Diseases 7091
      disease of metabolism 7091
        inherited metabolic disorder 5489
          Metabolic Brain Diseases, Inborn 1330
            Lysosomal Storage Diseases, Nervous System 177
              glycogen storage disease II 5
                Cardiac Form of Generalized Glycogenosis 2
Path 2
Term Annotations click to browse term
  disease 15272
    disease of anatomical entity 14892
      nervous system disease 12970
        central nervous system disease 11623
          brain disease 10912
            Metabolic Brain Diseases 1463
              Metabolic Brain Diseases, Inborn 1330
                Lysosomal Storage Diseases, Nervous System 177
                  glycogen storage disease II 5
                    Cardiac Form of Generalized Glycogenosis 2
paths to the root