Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal biliary tract morphology (HP:0012440)help
Grandparent Node:
expand
Neoplasm of the gastrointestinal tract (HP:0007378)help
Parent Node:
expand
Biliary tract neoplasm (HP:0100574)help
..Starting node
..expand
Cholangiocarcinoma (HP:0030153)help
Term ID: 30153
Name: Cholangiocarcinoma
Synonym: Bile duct cancer
Definition: Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.
Comments:
Reference: HP:0030153
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMultiple biliary hamartomas (HP:0025519) help
..expandNeoplasm of the gallbladder (HP:0100575) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030153HP:0030153Cholangiocarcinoma0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040284 - Very rare
HP:0030153HP:0030153Cholangiocarcinoma0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040284 - Very rare4
HP:0030153HP:0030153Cholangiocarcinoma0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0030153HP:0030153Cholangiocarcinoma0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040284 - Very rare38
HP:0030153HP:0030153Cholangiocarcinoma0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0030153HP:0030153Cholangiocarcinoma0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040284 - Very rare563
HP:0030153HP:0030153Cholangiocarcinoma0PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040284 - Very rare563
HP:0030153HP:0030153Cholangiocarcinoma0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0030153HP:0030153Cholangiocarcinoma0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241


Genes (8) :BMP6 DZIP1L GPR35 HFE MST1 PKHD1 SEMA4D TCF4

Diseases (4) :ORPHA:465508 ORPHA:731 ORPHA:171 ORPHA:53035
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.