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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:hepatocellular clear cell carcinoma
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Accession:DOID:5016 term browser browse the term
Synonyms:exact_synonym: clear cell carcinoma of the liver cells;   hepatocellular carcinoma, clear cell type
 xref: ICDO:8174/3;   NCI:C5754
For additional species annotation, visit the Alliance of Genome Resources.


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hepatocellular clear cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 disease_progression ISO DNA:misssense mutation:cds:p.Arg132Cys(human)
DNA:polymorphism: :rs12478635(human)		 RGD PMID:28403884 PMID:25355558 RGD:14974227, RGD:14974228 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:polymorphism: :rs11632348(human) RGD PMID:25355558 RGD:14974228 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Lep leptin ISO mRNA:increased expression:liver: RGD PMID:20723213 RGD:14696785 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor ISO mRNA:increased expression:liver: RGD PMID:20723213 RGD:14696785 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO mRNA:increased expression:liver: RGD PMID:28460432 PMID:20723213 RGD:14696783, RGD:14696785 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of cellular proliferation 7758
      cancer 5585
        cell type cancer 3839
          carcinoma 3280
            adenocarcinoma 1714
              hepatocellular carcinoma 950
                hepatocellular clear cell carcinoma 5
Path 2
Term Annotations click to browse term
  disease 18970
    disease of cellular proliferation 7758
      Neoplasms by Site 7215
        Digestive System Neoplasms 3843
          Gastrointestinal Neoplasms 3718
            gastrointestinal system cancer 2909
              hepatobiliary system cancer 1104
                liver cancer 1015
                  liver carcinoma 955
                    hepatocellular carcinoma 950
                      hepatocellular clear cell carcinoma 5
paths to the root