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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 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114 		JBrowse link
nephroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III ISO DNA:mutations: : RGD PMID:24481001 RGD:149735348 NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879 		JBrowse link
renal adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7B ATPase copper transporting beta ISO RGD PMID:11509115 RGD:1302456 NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266 		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 chr 5:42,176,093...42,195,718
Ensembl chr 5:42,176,291...42,195,711 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of cellular proliferation 7263
      benign neoplasm 2153
        organ system benign neoplasm 1257
          urinary system benign neoplasm 4
            bladder benign neoplasm + 0
            kidney benign neoplasm + 4
            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 17773
    disease of cellular proliferation 7263
      Neoplasms by Site 6728
        Urogenital Neoplasms 2130
          Urologic Neoplasms 702
            urinary system benign neoplasm 4
              bladder benign neoplasm + 0
              kidney benign neoplasm + 4
              ureteral benign neoplasm + 0
              urethral benign neoplasm + 0
              urinary tract papillary transitional cell benign neoplasm + 0
paths to the root