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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 HNF1A on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: familial hepatic adenomas;   familial liver cell adenomas
 primary_id: MESH:C564190
 alt_id: OMIM:142330
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of cellular proliferation 5912
      Neoplasms by Histologic Type 3722
        cell type benign neoplasm 779
          adenoma 303
            hepatocellular adenoma 17
              familial hepatic adenoma 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        Gastrointestinal Diseases 2598
          Gastrointestinal Neoplasms 1768
            gastrointestinal system benign neoplasm 153
              hepatobiliary benign neoplasm 121
                liver benign neoplasm 34
                  hepatocellular adenoma 17
                    familial hepatic adenoma 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.