Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the gastrointestinal tract (HP:0011024)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Abnormal biliary tract morphology (HP:0012440)help
Parent Node:
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Neoplasm of the gastrointestinal tract (HP:0007378)help
..Starting node
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Biliary tract neoplasm (HP:0100574)help
Term ID: 100574
Name: Biliary tract neoplasm
Synonym: Neoplasia of the biliary tract
Definition: A tumor (abnormal growth of tissue) of the biliary system.
Comments:
Reference: HP:0100574
Genes and Diseases:
 
       Child Nodes:
........expandMultiple biliary hamartomas (HP:0025519) help
........expandCholangiocarcinoma (HP:0030153) help
........expandNeoplasm of the gallbladder (HP:0100575) help

 Sister Nodes: 
..expandAmpulla of Vater carcinoma (HP:0031524) help
..expandBenign gastrointestinal tract tumors (HP:0006719) help
..expandDesmoid tumors (HP:0100245) help
..expandEsophageal neoplasm (HP:0100751) help
..expandGastrointestinal stroma tumor (HP:0100723) help
..expandIntestinal carcinoid (HP:0006723) help
..expandIntestinal polyp (HP:0005266) help
..expandMalignant gastrointestinal tract tumors (HP:0006749) help
..expandMultiple intestinal neurofibromatosis (HP:0005220) help
..expandNeoplasm of the large intestine (HP:0100834) help
..expandNeoplasm of the liver (HP:0002896) help
..expandNeoplasm of the small intestine (HP:0100833) help
..expandNeoplasm of the stomach (HP:0006753) help
..expandPrimary peritoneal carcinoma (HP:0030406) help
..expandZollinger-Ellison syndrome (HP:0002044) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100574HP:0100574Biliary tract neoplasm0PTPN3 CL E G H577470567ORPHA1399655176877
HP:0100574HP:0025519Multiple biliary hamartomas1PTPN3 CL E G H577470567ORPHA1399655176877
HP:0100574HP:0030153Cholangiocarcinoma1PTPN3 CL E G H577470567ORPHA1399655176877
HP:0100574HP:0100575Neoplasm of the gallbladder1PTPN3 CL E G H577470567ORPHA1399655176877
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100574HP:0100574Biliary tract neoplasm0RNF43 CL E G H54894157798ORPHA032218505612482
HP:0100574HP:0100574Biliary tract neoplasm0RNF43 CL E G H54894157798ORPHA022118505612482
HP:0100574HP:0100574Biliary tract neoplasm0STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0194511389602216
HP:0100574HP:0100574Biliary tract neoplasm0STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0182011389602216
HP:0100574HP:0030153Cholangiocarcinoma1RNF43 CL E G H54894157798ORPHA032218505612482
HP:0100574HP:0030153Cholangiocarcinoma1RNF43 CL E G H54894157798ORPHA022118505612482
HP:0100574HP:0100575Neoplasm of the gallbladder1RNF43 CL E G H54894157798ORPHA032218505612482
HP:0100574HP:0025519Multiple biliary hamartomas1RNF43 CL E G H54894157798ORPHA032218505612482
HP:0100574HP:0100575Neoplasm of the gallbladder1RNF43 CL E G H54894157798ORPHA022118505612482
HP:0100574HP:0025519Multiple biliary hamartomas1RNF43 CL E G H54894157798ORPHA022118505612482
HP:0100574HP:0030153Cholangiocarcinoma1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0194511389602216
HP:0100574HP:0030153Cholangiocarcinoma1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0182011389602216
HP:0100574HP:0025519Multiple biliary hamartomas1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0194511389602216
HP:0100574HP:0100575Neoplasm of the gallbladder1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0194511389602216
HP:0100574HP:0100575Neoplasm of the gallbladder1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0182011389602216
HP:0100574HP:0025519Multiple biliary hamartomas1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0182011389602216


Genes (8) :ARSA GPR35 MST1 PSAP PTPN3 RNF43 STK11 TCF4

Diseases (5) :70567 157798 2869 309271 171
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.