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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 IAGP DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:29512829, PMID:22251200 RGD:21079730, RGD:21079732 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of cellular proliferation 5907
      benign neoplasm 1479
        cell type benign neoplasm 1305
          angiomyolipoma 6
            hepatic angiomyolipoma 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      cardiovascular system disease 4372
        vascular disease 3309
          Vascular Tissue Neoplasms 130
            vascular cancer 37
              perivascular tumor 18
                perivascular epithelioid cell tumor 16
                  angiomyolipoma 6
                    hepatic angiomyolipoma 1
paths to the root