Human Phenotype Ontology 
Grandparent Node:
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Intestinal polyposis (HP:0200008)help
Parent Node:
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Hamartomatous polyposis (HP:0004390)help
Parent Node:
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Large intestinal polyposis (HP:0030255)help
..Starting node
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Juvenile colonic polyposis (HP:0012198)help
Term ID: 12198
Name: Juvenile colonic polyposis
Synonym:
Definition: The presence of more than 5 juvenile polyps of the colon. 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.
Comments:
Reference: HP:0012198
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAdenomatous colonic polyposis (HP:0005227) help
..expandColorectal polyposis (HP:0200063) help
..expandHyperplastic colonic polyposis (HP:0012183) help
..expandRectal polyposis (HP:0100896) 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:0012198HP:0012198Juvenile colonic polyposis0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent385
HP:0012198HP:0012198Juvenile colonic polyposis0BMPR1A CL E G H6571076OMIM:610069POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2385
HP:0012198HP:0012198Juvenile colonic polyposis0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent9


Genes (2) :BMPR1A GREM1

Diseases (2) :ORPHA:157794 OMIM:610069
 

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