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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:hepatic angiomyolipoma
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Accession:DOID:3317 term browser browse the term
Synonyms:xref: NCI:C27485
For additional species annotation, visit the Alliance of Genome Resources.

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hepatic angiomyolipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsc2 TSC complex subunit 2 ISO associated with tuberous sclerosis;DNA:mutations:multiple RGD PMID:22251200 PMID:29512829 RGD:21079730 RGD:21079732 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of cellular proliferation 6683
      benign neoplasm 1981
        cell type benign neoplasm 1737
          angiomyolipoma 7
            hepatic angiomyolipoma 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7250
        connective tissue disease 4916
          Connective Tissue Neoplasms 1584
            connective tissue cancer 723
              perivascular tumor 32
                perivascular epithelioid cell tumor 24
                  angiomyolipoma 7
                    hepatic angiomyolipoma 1
paths to the root