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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 HEP mRNA:increased expression:kidney (human) RGD PMID:31964418 RGD:153344516 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636 		JBrowse link
G HNF1A HNF1 homeobox A IEP
IAGP		 RNA:decreased expression:kidney (human)
ClinVar Annotator: match by term: Chromophobe renal cell carcinoma		 ClinVar
RGD		 PMID:9392505 PMID:9754819 PMID:10966642 PMID:11393552 PMID:15649945 More... RGD:150540316 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNF1B HNF1 homeobox B IAGP ClinVar Annotator: match by term: Chromophobe renal cell carcinoma ClinVar PMID:15649945 PMID:16371430 PMID:25536396 PMID:25700310 PMID:25741868 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of cellular proliferation 9736
      cancer 6692
        cell type cancer 4570
          carcinoma 3530
            adenocarcinoma 1835
              renal cell carcinoma 407
                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 41189
    disease of cellular proliferation 9736
      Neoplasms by Site 8912
        Urogenital Neoplasms 2919
          Urologic Neoplasms 814
            urinary system cancer 761
              kidney cancer 554
                renal carcinoma 413
                  renal cell carcinoma 407
                    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