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 esophagus morphology (HP:0002031)help
Parent Node:
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Neoplasm of head and neck (HP:0012288)help
Parent Node:
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Neoplasm of the gastrointestinal tract (HP:0007378)help
..Starting node
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Esophageal neoplasm (HP:0100751)help
Term ID: 100751
Name: Esophageal neoplasm
Synonym: Esophageal tumor; Esophageal tumour
Definition: A tumor (abnormal growth of tissue) of the esophagus.
Comments:
Reference: HP:0100751
Genes and Diseases:
 
       Child Nodes:
........expandEsophageal carcinoma (HP:0011459) help
........expandEsophageal squamous papilloma (HP:0031463) help
........expandBarrett esophagus (HP:0100580) help

 Sister Nodes: 
..expandAmpulla of Vater carcinoma (HP:0031524) help
..expandBenign gastrointestinal tract tumors (HP:0006719) help
..expandBiliary tract neoplasm (HP:0100574) help
..expandDesmoid tumors (HP:0100245) 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:0100751HP:0100751Esophageal neoplasm0RHBDF2 CL E G H796512198ORPHA117020788614404
HP:0100751HP:0100751Esophageal neoplasm0RHBDF2 CL E G H796512198ORPHA116720788614404
HP:0100751HP:0031463Esophageal squamous papilloma1RHBDF2 CL E G H796512198ORPHA117020788614404
HP:0100751HP:0100580Barrett esophagus1RHBDF2 CL E G H796512198ORPHA117020788614404
HP:0100751HP:0031463Esophageal squamous papilloma1RHBDF2 CL E G H796512198ORPHA116720788614404
HP:0100751HP:0100580Barrett esophagus1RHBDF2 CL E G H796512198ORPHA116720788614404
HP:0100751HP:0011459Esophageal carcinoma1RHBDF2 CL E G H796512198ORPHA117020788614404
HP:0100751HP:0011459Esophageal carcinoma1RHBDF2 CL E G H796512198ORPHA116720788614404
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100751HP:0100751Esophageal neoplasm0KIT CL E G H381544890ORPHA017356342164920
HP:0100751HP:0100751Esophageal neoplasm0KIT CL E G H381544890ORPHA014906342164920
HP:0100751HP:0100751Esophageal neoplasm0PDGFRA CL E G H515644890ORPHA019298803173490
HP:0100751HP:0100751Esophageal neoplasm0PDGFRA CL E G H515644890ORPHA016808803173490
HP:0100751HP:0100751Esophageal neoplasm0SDHA CL E G H638944890ORPHA0177810680600857
HP:0100751HP:0100751Esophageal neoplasm0SDHA CL E G H638944890ORPHA0154510680600857
HP:0100751HP:0100751Esophageal neoplasm0SDHB CL E G H639044890ORPHA092610681185470
HP:0100751HP:0100751Esophageal neoplasm0SDHB CL E G H639044890ORPHA082410681185470
HP:0100751HP:0100751Esophageal neoplasm0SDHC CL E G H639144890ORPHA057510682602413
HP:0100751HP:0100751Esophageal neoplasm0SDHC CL E G H639144890ORPHA052610682602413
HP:0100751HP:0100751Esophageal neoplasm0STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0194511389602216
HP:0100751HP:0100751Esophageal neoplasm0STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0182011389602216
HP:0100751HP:0031463Esophageal squamous papilloma1KIT CL E G H381544890ORPHA017356342164920
HP:0100751HP:0100580Barrett esophagus1KIT CL E G H381544890ORPHA017356342164920
HP:0100751HP:0100580Barrett esophagus1KIT CL E G H381544890ORPHA014906342164920
HP:0100751HP:0031463Esophageal squamous papilloma1KIT CL E G H381544890ORPHA014906342164920
HP:0100751HP:0011459Esophageal carcinoma1KIT CL E G H381544890ORPHA017356342164920
HP:0100751HP:0011459Esophageal carcinoma1KIT CL E G H381544890ORPHA014906342164920
HP:0100751HP:0100580Barrett esophagus1PDGFRA CL E G H515644890ORPHA019298803173490
HP:0100751HP:0031463Esophageal squamous papilloma1PDGFRA CL E G H515644890ORPHA019298803173490
HP:0100751HP:0100580Barrett esophagus1PDGFRA CL E G H515644890ORPHA016808803173490
HP:0100751HP:0031463Esophageal squamous papilloma1PDGFRA CL E G H515644890ORPHA016808803173490
HP:0100751HP:0011459Esophageal carcinoma1PDGFRA CL E G H515644890ORPHA019298803173490
HP:0100751HP:0011459Esophageal carcinoma1PDGFRA CL E G H515644890ORPHA016808803173490
HP:0100751HP:0100580Barrett esophagus1SDHA CL E G H638944890ORPHA0177810680600857
HP:0100751HP:0031463Esophageal squamous papilloma1SDHA CL E G H638944890ORPHA0177810680600857
HP:0100751HP:0100580Barrett esophagus1SDHA CL E G H638944890ORPHA0154510680600857
HP:0100751HP:0031463Esophageal squamous papilloma1SDHA CL E G H638944890ORPHA0154510680600857
HP:0100751HP:0011459Esophageal carcinoma1SDHA CL E G H638944890ORPHA0177810680600857
HP:0100751HP:0011459Esophageal carcinoma1SDHA CL E G H638944890ORPHA0154510680600857
HP:0100751HP:0100580Barrett esophagus1SDHB CL E G H639044890ORPHA092610681185470
HP:0100751HP:0031463Esophageal squamous papilloma1SDHB CL E G H639044890ORPHA092610681185470
HP:0100751HP:0100580Barrett esophagus1SDHB CL E G H639044890ORPHA082410681185470
HP:0100751HP:0031463Esophageal squamous papilloma1SDHB CL E G H639044890ORPHA082410681185470
HP:0100751HP:0011459Esophageal carcinoma1SDHB CL E G H639044890ORPHA092610681185470
HP:0100751HP:0011459Esophageal carcinoma1SDHB CL E G H639044890ORPHA082410681185470
HP:0100751HP:0100580Barrett esophagus1SDHC CL E G H639144890ORPHA057510682602413
HP:0100751HP:0031463Esophageal squamous papilloma1SDHC CL E G H639144890ORPHA057510682602413
HP:0100751HP:0100580Barrett esophagus1SDHC CL E G H639144890ORPHA052610682602413
HP:0100751HP:0031463Esophageal squamous papilloma1SDHC CL E G H639144890ORPHA052610682602413
HP:0100751HP:0011459Esophageal carcinoma1SDHC CL E G H639144890ORPHA057510682602413
HP:0100751HP:0011459Esophageal carcinoma1SDHC CL E G H639144890ORPHA052610682602413
HP:0100751HP:0100580Barrett esophagus1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0194511389602216
HP:0100751HP:0031463Esophageal squamous papilloma1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0194511389602216
HP:0100751HP:0100580Barrett esophagus1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0182011389602216
HP:0100751HP:0031463Esophageal squamous papilloma1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0182011389602216
HP:0100751HP:0011459Esophageal carcinoma1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0194511389602216
HP:0100751HP:0011459Esophageal carcinoma1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0182011389602216


Genes (18) :APC ASCC1 CTHRC1 DLEC1 FH KIT MSR1 PDGFRA RAD21 RHBDF2 RNF6 SDHA SDHB SDHC STAT1 STK11 TGFBR2 WWOX

Diseases (11) :44890 2198 2869 247806 79665 614266 99977 523 611376 148500 391487
 

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