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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:Familial Cirrhosis with Deposition of Abnormal Glycogen
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Accession:DOID:9007811 term browser browse the term
Synonyms:primary_id: MESH:C537275
 alt_id: RDO:0003086


show annotations for term's descendants           Sort by:
Familial Cirrhosis with Deposition of Abnormal Glycogen term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAA alpha glucosidase IAGP ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen ClinVar PMID:2510307 PMID:7668832 PMID:7717400 PMID:7881425 PMID:8558570 More... NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen ClinVar PMID:8059607 PMID:8247964 PMID:8613547 PMID:9536098 PMID:9851430 More... NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97458
    Developmental Disease 35342
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28824
        genetic disease 27336
          monogenic disease 20183
            autosomal genetic disease 18879
              autosomal recessive disease 11170
                glycogen storage disease IV 9
                  Familial Cirrhosis with Deposition of Abnormal Glycogen 2
Path 2
Term Annotations click to browse term
  disease 97458
    Developmental Disease 35342
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28824
        genetic disease 27336
          inherited metabolic disorder 9867
            carbohydrate metabolic disorder 4593
              glycogen metabolism disorder 341
                glycogen storage disease 341
                  glycogen storage disease IV 9
                    Familial Cirrhosis with Deposition of Abnormal Glycogen 2
paths to the root