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 large intestine morphology (HP:0002250)help
Parent Node:
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Neoplasm of the gastrointestinal tract (HP:0007378)help
..Starting node
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Neoplasm of the large intestine (HP:0100834)help
Term ID: 100834
Name: Neoplasm of the large intestine
Synonym: Large intestine tumor
Definition: The presence of a neoplasm of the large intestine.
Comments:
Reference: HP:0100834
Genes and Diseases:
 
       Child Nodes:
........expandHereditary nonpolyposis colorectal carcinoma (HP:0006716) help
........expandAnal canal neoplasm (HP:0030437) help
................... HP:0006763 Anal canal squamous carcinoma
................... HP:0030438 Anal canal squamous cell carcinoma
................... HP:0030439 Anal canal adenocarcinoma
........expandAdenocarcinoma of the large intestine (HP:0040275) help
................... HP:0030439 Anal canal adenocarcinoma
................... HP:0040276 Adenocarcinoma of the colon
........expandNeoplasm of the colon (HP:0100273) help
................... HP:0003003 Colon cancer
................... HP:0005227 Adenomatous colonic polyposis
................... HP:0040276 Adenocarcinoma of the colon
........expandNeoplasm of the rectum (HP:0100743) help
................... HP:0100896 Rectal polyposis
................... HP:0200063 Colorectal polyposis

 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
..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 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:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100834HP:0100834Neoplasm of the large intestine0 CL E G H
HP:0100834HP:0100834Neoplasm of the large intestine1 CL E G H
HP:0100834HP:0100834Neoplasm of the large intestine2 CL E G H


Genes (67) :AAGAB AKT1 APC AXIN2 BMPR1A BRCA1 BRCA2 BUB1 BUB1B BUB3 CDKN2A CEP57 CHEK2 COL14A1 CTNNB1 DCC DICER1 DLC1 DOCK8 EP300 EPCAM FAN1 FGFR3 FLCN FOXE1 GPR35 GREM1 HABP2 KEAP1 KIT KLLN KRAS MDM2 MINPP1 MLH1 MLH3 MSH2 MSH3 MSH6 MST1 MUTYH NRAS NTHL1 PALB2 PALLD PDGFRA PIK3CA PMS1 PMS2 POLD1 POLE PRKAR1A PTEN RNF43 RPS19 SDHA SDHB SDHC SDHD SEC23B SMAD4 SRC STK11 TCF4 TGFBR2 TP53 TRIP13

Diseases (42) :114500 524 144 613244 171 44890 614385 614350 454840 614337 2869 614331 79501 201 79665 247806 261584 135290 175100 401911 608615 157794 610069 174900 1333 1052 276399 217390 135150 319487 587 609310 158320 120435 480536 247798 608456 447877 1359 157798 105650 151623
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.