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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:urinary system benign neoplasm
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Accession:DOID:731 term browser browse the term
Definition:An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. (DO)
Synonyms:xref: NCI:C3431
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
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Renal angiomyolipoma ClinVar PMID:30311386 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
renal oncocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flcn folliculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12204536 NCBI chr10:46,153,185...46,172,331
Ensembl chr10:46,153,188...46,172,309
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of cellular proliferation 5912
      benign neoplasm 957
        organ system benign neoplasm 451
          urinary system benign neoplasm 5
            bladder benign neoplasm + 0
            kidney benign neoplasm + 5
            ureteral benign neoplasm + 0
            urethral benign neoplasm + 0
            urinary tract papillary transitional cell benign neoplasm + 0
Path 2
Term Annotations click to browse term
  disease 16103
    disease of cellular proliferation 5912
      Neoplasms by Site 5277
        Urogenital Neoplasms 1906
          Urologic Neoplasms 624
            urinary system benign neoplasm 5
              bladder benign neoplasm + 0
              kidney benign neoplasm + 5
              ureteral benign neoplasm + 0
              urethral benign neoplasm + 0
              urinary tract papillary transitional cell benign neoplasm + 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.