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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
 primary_id: RDO:9004153
 xref: 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 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of cellular proliferation 5923
      benign neoplasm 972
        cell type benign neoplasm 795
          angiomyolipoma 6
            kidney angiomyolipoma 1
              childhood kidney angiomyolipoma 0
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      cardiovascular system disease 4413
        vascular disease 3342
          Vascular Tissue Neoplasms 136
            vascular cancer 37
              perivascular tumor 18
                perivascular epithelioid cell tumor 16
                  angiomyolipoma 6
                    kidney angiomyolipoma 1
                      childhood kidney angiomyolipoma 0
paths to the root