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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 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 chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839 		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 chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15811
    Developmental Disease 13817
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12866
        genetic disease 12561
          monogenic disease 10778
            autosomal genetic disease 10315
              autosomal recessive disease 6939
                glycogen storage disease IV 4
                  Familial Cirrhosis with Deposition of Abnormal Glycogen 2
Path 2
Term Annotations click to browse term
  disease 15811
    Developmental Disease 13817
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12866
        genetic disease 12561
          inherited metabolic disorder 5927
            carbohydrate metabolic disorder 2829
              glycogen metabolism disorder 297
                glycogen storage disease 297
                  glycogen storage disease IV 4
                    Familial Cirrhosis with Deposition of Abnormal Glycogen 2
paths to the root