Human Phenotype Ontology 
Grandparent Node:
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Abnormal intestine morphology (HP:0002242)help
Grandparent Node:
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Neoplasm of the gastrointestinal tract (HP:0007378)help
Parent Node:
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Hamartoma (HP:0010566)help
Parent Node:
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Intestinal polyp (HP:0005266)help
..Starting node
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Hamartomatous polyposis (HP:0004390)help
Term ID: 4390
Name: Hamartomatous polyposis
Synonym: Gastrointestinal hamartoma; Gastrointestinal hamartomatous polyps; Hamartomatous polyps
Definition: Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
Comments:
Reference: HP:0004390
Genes and Diseases:
 
       Child Nodes:
........expandJuvenile gastrointestinal polyposis (HP:0004784) help
........expandHamartomatous stomach polyps (HP:0004795) help
........expandJuvenile colonic polyposis (HP:0012198) help

 Sister Nodes: 
..expandInflammatory cap polyp (HP:0025198) help
..expandIntestinal polyposis (HP:0200008) help
..expandSmall intestinal polyp (HP:0012737) 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:0004390HP:0004390Hamartomatous polyposis0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0004390HP:0004390Hamartomatous polyposis0AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0004390HP:0004390Hamartomatous polyposis0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0004390HP:0004390Hamartomatous polyposis0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent385
HP:0004390HP:0004390Hamartomatous polyposis0BMPR1A CL E G H6571076OMIM:610069POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2385
HP:0004390HP:0004390Hamartomatous polyposis0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0004390HP:0004390Hamartomatous polyposis0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0004390HP:0004390Hamartomatous polyposis0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposis5
HP:0004390HP:0004390Hamartomatous polyposis0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040282 - Frequent162
HP:0004390HP:0004390Hamartomatous polyposis0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0004390HP:0004390Hamartomatous polyposis0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0004390HP:0004390Hamartomatous polyposis0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0004390HP:0004390Hamartomatous polyposis0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040281 - Very frequent948
HP:0004390HP:0004390Hamartomatous polyposis0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040282 - Frequent948
HP:0004390HP:0004390Hamartomatous polyposis0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0004390HP:0004390Hamartomatous polyposis0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent948
HP:0004390HP:0004390Hamartomatous polyposis0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040282 - Frequent237
HP:0004390HP:0004390Hamartomatous polyposis0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040282 - Frequent147
HP:0004390HP:0004390Hamartomatous polyposis0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040282 - Frequent129
HP:0004390HP:0004390Hamartomatous polyposis0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040282 - Frequent60
HP:0004390HP:0004390Hamartomatous polyposis0SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome.504
HP:0004390HP:0004390Hamartomatous polyposis0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0004390HP:0004390Hamartomatous polyposis0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0004390HP:0004390Hamartomatous polyposis0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0004390HP:0012198Juvenile colonic polyposis1BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent385
HP:0004390HP:0012198Juvenile colonic polyposis1BMPR1A CL E G H6571076OMIM:610069POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2385
HP:0004390HP:0012198Juvenile colonic polyposis1GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040282 - Frequent9
HP:0004390HP:0004784Juvenile gastrointestinal polyposis1MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040281 - Very frequent5
HP:0004390HP:0004795Hamartomatous stomach polyps1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0004390HP:0004795Hamartomatous stomach polyps1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0004390HP:0004784Juvenile gastrointestinal polyposis1SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome504
HP:0004390HP:0004795Hamartomatous stomach polyps1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124


Genes (17) :AKT1 BMPR1A GREM1 KLLN MSH3 PIK3CA PTCH1 PTCH2 PTEN SDHB SDHC SDHD SEC23B SMAD4 STK11 SUFU USF3

Diseases (12) :ORPHA:201 OMIM:615109 ORPHA:157794 ORPHA:79076 OMIM:610069 ORPHA:480536 OMIM:615108 OMIM:109400 ORPHA:109 OMIM:158350 OMIM:175050 OMIM:175200
 

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