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 intestine morphology (HP:0002242)help
Parent Node:
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Neoplasm of the gastrointestinal tract (HP:0007378)help
..Starting node
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Intestinal polyp (HP:0005266)help
Term ID: 5266
Name: Intestinal polyp
Synonym: Intestinal polyps
Definition: A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.
Comments:
Reference: HP:0005266
Genes and Diseases:
 
       Child Nodes:
........expandHamartomatous polyposis (HP:0004390) help
................... HP:0004784 Juvenile gastrointestinal polyposis
................... HP:0004795 Hamartomatous stomach polyps
................... HP:0012198 Juvenile colonic polyposis
........expandSmall intestinal polyp (HP:0012737) help
........expandInflammatory cap polyp (HP:0025198) help
........expandIntestinal polyposis (HP:0200008) help
................... HP:0005238 Discrete intestinal polyps
................... HP:0030255 Large intestinal polyposis
................... HP:0030256 Small intestinal 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
..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:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005266HP:0005266Intestinal polyp0 CL E G H
HP:0005266HP:0004390Hamartomatous polyposis1 CL E G H
HP:0005266HP:0200008Intestinal polyposis1 CL E G H
HP:0005266HP:0012737Small intestinal polyp1 CL E G H
HP:0005266HP:0025198Inflammatory cap polyp1 CL E G H
HP:0005266HP:0004784Juvenile gastrointestinal polyposis2 CL E G H
HP:0005266HP:0030255Large intestinal polyposis2 CL E G H
HP:0005266HP:0030256Small intestinal polyposis2 CL E G H
HP:0005266HP:0005238Discrete intestinal polyps2 CL E G H
HP:0005266HP:0032222Serrated intestinal polyps2 CL E G H
HP:0005266HP:0012198Juvenile colonic polyposis2 CL E G H
HP:0005266HP:0004795Hamartomatous stomach polyps2 CL E G H
HP:0005266HP:0004783Duodenal polyposis3 CL E G H
HP:0005266HP:0005227Adenomatous colonic polyposis3 CL E G H
HP:0005266HP:0012198Juvenile colonic polyposis3 CL E G H
HP:0005266HP:0100896Rectal polyposis3 CL E G H
HP:0005266HP:0200063Colorectal polyposis3 CL E G H
HP:0005266HP:0012183Hyperplastic colonic polyposis3 CL E G H


Genes (55) :ACVRL1 AKT1 APC AXIN2 BMPR1A BUB1 BUB1B BUB3 CEP57 COMP CTNNB1 DICER1 ECE1 EDN3 EDNRB ENG EPCAM FAN1 FLCN GDF2 GDNF GNAS GREM1 KEAP1 KLLN KRAS MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH NRTN NTHL1 PIK3CA PMS1 PMS2 POLD1 POLE PTCH1 PTCH2 PTEN RET RNF43 SDHB SDHC SDHD SEC23B SEMA3C SEMA3D SMAD4 STK11 SUFU TGFBR2 TRIP13

Diseases (33) :774 201 615109 873 1052 750 388 144 174800 615108 109 158350 616858 175050 175200 610069 135150 480536 109400 617108 79665 261584 247806 175100 401911 608615 157794 276399 247798 608456 454840 447877 157798
 

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