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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.



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 IAGP DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:29512829 PMID:22251200 RGD:21079730, RGD:21079732 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      benign neoplasm 1944
        cell type benign neoplasm 1756
          angiomyolipoma 6
            hepatic angiomyolipoma 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Skin and Connective Tissue Diseases 5863
        connective tissue disease 4447
          Connective Tissue Neoplasms 1625
            connective tissue cancer 708
              perivascular tumor 18
                perivascular epithelioid cell tumor 16
                  angiomyolipoma 6
                    hepatic angiomyolipoma 1
paths to the root