Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of the skeletal system (HP:0010622)help
Parent Node:
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Exostoses (HP:0100777)help
..Starting node
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Multiple exostoses (HP:0002762)help
Term ID: 2762
Name: Multiple exostoses
Synonym:
Definition: Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
Comments:
Reference: HP:0002762
Genes and Diseases:
 
       Child Nodes:
........expandHumeral exostoses (HP:0003872) help
........expandMultiple long-bone exostoses (HP:0005039) help
........expandMultiple digital exostoses (HP:0005655) help

 Sister Nodes: 
..expandExostoses of hand bones (HP:0004276) help
..expandExostoses of the forearm bones (HP:0003960) help
..expandExostosis of the external auditory canal (HP:0004459) help
..expandPelvic bone exostoses (HP:0003276) help
..expandRib exostoses (HP:0000896) help
..expandScapular exostoses (HP:0000918) 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:0002762HP:0002762Multiple exostoses0ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare132
HP:0002762HP:0002762Multiple exostoses0EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I96
HP:0002762HP:0002762Multiple exostoses0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0002762HP:0002762Multiple exostoses0EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II102
HP:0002762HP:0002762Multiple exostoses0MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare45
HP:0002762HP:0002762Multiple exostoses0PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS291
HP:0002762HP:0002762Multiple exostoses0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0002762HP:0002762Multiple exostoses0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2171
HP:0002762HP:0003872Humeral exostoses1 CL E G H
HP:0002762HP:0005039Multiple long-bone exostoses1EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent96
HP:0002762HP:0005655Multiple digital exostoses1PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS.291
HP:0002762HP:0005039Multiple long-bone exostoses1TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent171


Genes (7) :ALX4 EXT1 EXT2 MSX2 PTPN11 SHOX TRPS1

Diseases (6) :ORPHA:60015 OMIM:133700 ORPHA:502 OMIM:133701 OMIM:156250 OMIM:127300
 

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