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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 hepatic adenoma
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Accession:DOID:0111366 term browser browse the term
Definition:A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: familial hepatic adenomas;   familial liver cell adenomas
 primary_id: MESH:C564190
 alt_id: MIM:142330



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15726
    disease of cellular proliferation 7513
      benign neoplasm 2154
        cell type benign neoplasm 1899
          adenoma 682
            hepatocellular adenoma 16
              familial hepatic adenoma 1
Path 2
Term Annotations click to browse term
  disease 15726
    disease of cellular proliferation 7513
      Neoplasms by Site 6980
        Digestive System Neoplasms 3728
          Gastrointestinal Neoplasms 3614
            gastrointestinal system benign neoplasm 221
              hepatobiliary benign neoplasm 171
                liver benign neoplasm 34
                  hepatocellular adenoma 16
                    familial hepatic adenoma 1
paths to the root