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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.


show annotations for term's descendants           Sort by:
hepatic angiomyolipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSC2 TSC complex subunit 2 ISO DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple		 RGD PMID:22251200 PMID:29512829 RGD:21079730 RGD:21079732 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of cellular proliferation 7153
      benign neoplasm 2122
        cell type benign neoplasm 1871
          angiomyolipoma 7
            hepatic angiomyolipoma 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      musculoskeletal system disease 7669
        connective tissue disease 5226
          Connective Tissue Neoplasms 1701
            connective tissue cancer 752
              perivascular tumor 32
                perivascular epithelioid cell tumor 24
                  angiomyolipoma 7
                    hepatic angiomyolipoma 1
paths to the root