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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:kidney angiomyolipoma
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Accession:DOID:8411 term browser browse the term
Synonyms:exact_synonym: angiomyolipoma of kidney;   renal angiomyolipoma
 related_synonym: Renal TSC2 Angiomyolipomas, Modifier of
 alt_id: DOID:9000764;   MESH:C567682
 xref: EFO:1000312;   NCI:C3888
For additional species annotation, visit the Alliance of Genome Resources.


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kidney angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase treatment ISO associated with Tuberous Sclerosis RGD PMID:23054313 RGD:7245506 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      benign neoplasm 2230
        cell type benign neoplasm 1969
          angiomyolipoma 7
            kidney angiomyolipoma 1
              childhood kidney angiomyolipoma 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      musculoskeletal system disease 8306
        connective tissue disease 5786
          Connective Tissue Neoplasms 1773
            connective tissue cancer 810
              perivascular tumor 33
                perivascular epithelioid cell tumor 25
                  angiomyolipoma 7
                    kidney angiomyolipoma 1
                      childhood kidney angiomyolipoma 0
paths to the root