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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

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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 ISO 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 chrNW_004624801:9,217,633...9,235,931
Ensembl chrNW_004624801:9,217,639...9,235,931 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO 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 chrNW_004624874:2,157,291...2,444,786
Ensembl chrNW_004624874:2,157,524...2,444,111 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14215
    Developmental Disease 12490
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11727
        genetic disease 11448
          monogenic disease 9843
            autosomal genetic disease 9450
              autosomal recessive disease 6466
                glycogen storage disease IV 4
                  Familial Cirrhosis with Deposition of Abnormal Glycogen 2
Path 2
Term Annotations click to browse term
  disease 14215
    Developmental Disease 12490
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11727
        genetic disease 11448
          inherited metabolic disorder 5486
            carbohydrate metabolic disorder 2653
              glycogen metabolism disorder 286
                glycogen storage disease 286
                  glycogen storage disease IV 4
                    Familial Cirrhosis with Deposition of Abnormal Glycogen 2
paths to the root