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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:chromophobe renal cell carcinoma
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Accession:DOID:4471 term browser browse the term
Definition:A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. (DO)
Synonyms:exact_synonym: Chromophobe carcinoma of kidney;   chromophobe adenocarcinoma;   kidney chromophobe;   renal cell carcinoma, chromophobe cell
 primary_id: RDO:9001911
 xref: EFO:0000335;   GARD:6064;   NCI:C4146
For additional species annotation, visit the Alliance of Genome Resources.


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chromophobe renal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC5 baculoviral IAP repeat containing 5 exacerbates ISO mRNA:increased expression:kidney (human) RGD PMID:31964418 RGD:153344516 NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159 		JBrowse link
G HNF1A HNF1 homeobox A ISO ClinVar Annotator: match by term: Chromophobe renal cell carcinoma ClinVar PMID:9392505 PMID:9754819 PMID:10966642 PMID:11393552 PMID:15649945 More... NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911 		JBrowse link
G HNF1B HNF1 homeobox B ISO ClinVar Annotator: match by term: Chromophobe renal cell carcinoma ClinVar PMID:15649945 PMID:16371430 PMID:25536396 PMID:25700310 PMID:25741868 NCBI chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      cancer 5233
        cell type cancer 3590
          carcinoma 3058
            adenocarcinoma 1587
              renal cell carcinoma 347
                chromophobe renal cell carcinoma 3
                  classic variant of chromophobe renal cell carcinoma 0
                  eosinophilic variant of chromophobe renal cell carcinoma 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      Neoplasms by Site 6708
        Urogenital Neoplasms 2129
          Urologic Neoplasms 690
            urinary system cancer 638
              kidney cancer 457
                renal carcinoma 353
                  renal cell carcinoma 347
                    chromophobe renal cell carcinoma 3
                      classic variant of chromophobe renal cell carcinoma 0
                      eosinophilic variant of chromophobe renal cell carcinoma 0
paths to the root