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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:primary_id: RDO:9002118
 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 DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:22251200 PMID:29512829 RGD:21079730 RGD:21079732 NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13806
    disease of cellular proliferation 6631
      benign neoplasm 1853
        cell type benign neoplasm 1683
          angiomyolipoma 6
            hepatic angiomyolipoma 1
Path 2
Term Annotations click to browse term
  disease 13806
    disease of anatomical entity 13463
      Skin and Connective Tissue Diseases 5141
        connective tissue disease 3907
          Connective Tissue Neoplasms 1586
            connective tissue cancer 687
              perivascular tumor 18
                perivascular epithelioid cell tumor 16
                  angiomyolipoma 6
                    hepatic angiomyolipoma 1
paths to the root