Human Phenotype Ontology 
Grandparent Node:
expandHamartoma (HP:0010566)help
Grandparent Node:
expandIntestinal polyp (HP:0005266)help
Parent Node:
expandHamartomatous polyposis (HP:0004390)help
..Starting node
..expandJuvenile gastrointestinal polyposis (HP:0004784)help
Term ID: 4784
Name: Juvenile gastrointestinal polyposis
Synonym: Juvenile GI polyposis
Definition: The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.
Comments:
Reference: HP:0004784
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHamartomatous stomach polyps (HP:0004795) help
..expandJuvenile colonic polyposis (HP:0012198) 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:0004784HP:0004784Juvenile gastrointestinal polyposis0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040281 - Very frequent5
HP:0004784HP:0004784Juvenile gastrointestinal polyposis0SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome504


Genes (2) :MSH3 SMAD4

Diseases (2) :ORPHA:480536 OMIM:175050
 

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