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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:Klatskin's tumor
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Accession:DOID:4927 term browser browse the term
Definition:An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts. (DO)
Synonyms:exact_synonym: Klatskin tumor;   Klatskin tumour;   Klatskin's tumour;   Klatskins tumor;   hilar cholangiocarcinoma;   hilar cholangiocarcinomas;   hilar cholangiocellular carcinoma;   perihilar cholangiocarcinoma;   perihilar extrahepatic bile duct carcinoma
 primary_id: MESH:D018285
 alt_id: DOID:5246
 xref: EFO:1001005;   EFO:1001959;   GARD:10175;   NCI:C36077;   ORDO:99978
For additional species annotation, visit the Alliance of Genome Resources.


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Klatskin's tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Klatskin tumor ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO DNA:deletions RGD PMID:33387086 RGD:126848756 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G GATA6 GATA binding protein 6 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr18:15,411,764...15,444,402 JBrowse link
G KMT2C lysine methyltransferase 2C onset ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 sexual_dimorphism ISO DNA:substitutions, insertion/deletions: (human) RGD PMID:33387086 RGD:126848756 NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      Neoplasms by Histologic Type 5050
        Glandular and Epithelial Neoplasms 3549
          carcinoma 3058
            adenocarcinoma 1587
              bile duct adenocarcinoma 127
                cholangiocarcinoma 127
                  intrahepatic cholangiocarcinoma 26
                    Klatskin's tumor 6
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      gastrointestinal system disease 6469
        Digestive System Neoplasms 3683
          Gastrointestinal Neoplasms 3563
            gastrointestinal system benign neoplasm 215
              hepatobiliary benign neoplasm 167
                biliary tract benign neoplasm 141
                  Bile Duct Neoplasms 138
                    bile duct cancer 136
                      bile duct carcinoma 127
                        bile duct adenocarcinoma 127
                          cholangiocarcinoma 127
                            intrahepatic cholangiocarcinoma 26
                              Klatskin's tumor 6
paths to the root