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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:extrahepatic bile duct carcinoma
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Accession:DOID:4682 term browser browse the term
Definition:A cholangiocarcinoma that arises from the extrahepatic bile ducts. (DO)
Synonyms:exact_synonym: carcinoma of extrahepatic bile duct;   extrahepatic bile duct cancer
 xref: MONDO:0003090;   NCI:C3860
For additional species annotation, visit the Alliance of Genome Resources.


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extrahepatic bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Extrahepatic bile duct cancer ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465 		JBrowse link
G Xpo1 exportin 1 disease_progression ISO protein:increased expression:extrahepatic bile duct (human) RGD PMID:27279267 RGD:151665800 NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498 		JBrowse link
extrahepatic bile duct adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO protein:increased expression:mucosa (human) RGD PMID:21537609 RGD:153350126 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24890221 RGD:151361210 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of cellular proliferation 7746
      Neoplasms by Histologic Type 5353
        Glandular and Epithelial Neoplasms 3812
          carcinoma 3278
            adenocarcinoma 1713
              bile duct adenocarcinoma 140
                cholangiocarcinoma 140
                  extrahepatic bile duct carcinoma 6
                    extrahepatic bile duct adenocarcinoma + 4
                    extrahepatic bile duct leiomyosarcoma 0
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      gastrointestinal system disease 7093
        Digestive System Neoplasms 3835
          Gastrointestinal Neoplasms 3710
            gastrointestinal system benign neoplasm 236
              hepatobiliary benign neoplasm 184
                biliary tract benign neoplasm 155
                  Bile Duct Neoplasms 152
                    bile duct cancer 150
                      bile duct carcinoma 140
                        bile duct adenocarcinoma 140
                          cholangiocarcinoma 140
                            extrahepatic bile duct carcinoma 6
                              extrahepatic bile duct adenocarcinoma + 4
                              extrahepatic bile duct leiomyosarcoma 0
paths to the root