Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal morphology (HP:0011842)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Neoplasm of the skeletal system (HP:0010622)help
..Starting node
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Exostoses (HP:0100777)help
Term ID: 100777
Name: Exostoses
Synonym: Formation of new noncancerous bone on top of existing bone
Definition: 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:0100777
Genes and Diseases:
 
       Child Nodes:
........expandRib exostoses (HP:0000896) help
........expandScapular exostoses (HP:0000918) help
........expandMultiple exostoses (HP:0002762) help
................... HP:0003872 Humeral exostoses
................... HP:0005039 Multiple long-bone exostoses
................... HP:0005655 Multiple digital exostoses
........expandPelvic bone exostoses (HP:0003276) help
........expandExostoses of the forearm bones (HP:0003960) help
................... HP:0003985 Exostoses of the ulna
................... HP:0003986 Exostoses of the radius
........expandExostoses of hand bones (HP:0004276) help
........expandExostosis of the external auditory canal (HP:0004459) help

 Sister Nodes: 
..expandChondroblastoma (HP:0030432) help
..expandChondrosarcoma (HP:0006765) help
..expandChordoma (HP:0010762) help
..expandEnchondroma (HP:0030038) help
..expandGiant cell tumor of bone (HP:0011847) help
..expandOsteoblastoma (HP:0011846) help
..expandOsteochondroma (HP:0030431) help
..expandOsteoma (HP:0100246) help
..expandOsteosarcoma (HP:0002669) 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:0100777HP:0100777Exostoses0ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.34
HP:0100777HP:0100777Exostoses0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0100777HP:0100777Exostoses0ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foramina132
HP:0100777HP:0100777Exostoses0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent132
HP:0100777HP:0100777Exostoses0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040282 - Frequent192
HP:0100777HP:0100777Exostoses0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0100777HP:0100777Exostoses0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040281 - Very frequent192
HP:0100777HP:0100777Exostoses0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0100777HP:0100777Exostoses0COL11A2 CL E G H13022187ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040283 - Occasional222
HP:0100777HP:0100777Exostoses0COL2A1 CL E G H12802200ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040283 - Occasional284
HP:0100777HP:0100777Exostoses0COL2A1 CL E G H12802200ORPHA:85198DysspondyloenchondromatosisHP:0040281 - Very frequent284
HP:0100777HP:0100777Exostoses0EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I96
HP:0100777HP:0100777Exostoses0EXT1 CL E G H21313512ORPHA:321Multiple osteochondromas96
HP:0100777HP:0100777Exostoses0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent96
HP:0100777HP:0100777Exostoses0EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II102
HP:0100777HP:0100777Exostoses0EXT2 CL E G H21323513ORPHA:321Multiple osteochondromas102
HP:0100777HP:0100777Exostoses0EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent102
HP:0100777HP:0100777Exostoses0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040283 - Occasional102
HP:0100777HP:0100777Exostoses0IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040282 - Frequent15
HP:0100777HP:0100777Exostoses0IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040282 - Frequent29
HP:0100777HP:0100777Exostoses0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0100777HP:0100777Exostoses0MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foramina45
HP:0100777HP:0100777Exostoses0PHF21A CL E G H5131724156ORPHA:52022Potocki-Shaffer syndromeHP:0040281 - Very frequent2
HP:0100777HP:0100777Exostoses0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0100777HP:0100777Exostoses0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040282 - Frequent948
HP:0100777HP:0100777Exostoses0PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS291
HP:0100777HP:0100777Exostoses0PTPN11 CL E G H57819644ORPHA:2499MetachondromatosisHP:0040281 - Very frequent291
HP:0100777HP:0100777Exostoses0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4.25
HP:0100777HP:0100777Exostoses0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0100777HP:0100777Exostoses0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0100777HP:0100777Exostoses0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent171
HP:0100777HP:0004276Exostoses of hand bones1 CL E G H
HP:0100777HP:0003960Exostoses of the forearm bones1 CL E G H
HP:0100777HP:0002762Multiple exostoses1ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare132
HP:0100777HP:0003276Pelvic bone exostoses1ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0100777HP:0004459Exostosis of the external auditory canal1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0100777HP:0000918Scapular exostoses1EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0100777HP:0002762Multiple exostoses1EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I96
HP:0100777HP:0003276Pelvic bone exostoses1EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0100777HP:0000896Rib exostoses1EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0100777HP:0000896Rib exostoses1EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040284 - Very rare96
HP:0100777HP:0000918Scapular exostoses1EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040284 - Very rare96
HP:0100777HP:0002762Multiple exostoses1EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 296
HP:0100777HP:0002762Multiple exostoses1EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II102
HP:0100777HP:0000896Rib exostoses1EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102
HP:0100777HP:0000918Scapular exostoses1EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102
HP:0100777HP:0003276Pelvic bone exostoses1EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102
HP:0100777HP:0000896Rib exostoses1EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040284 - Very rare102
HP:0100777HP:0000918Scapular exostoses1EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040284 - Very rare102
HP:0100777HP:0004459Exostosis of the external auditory canal1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0100777HP:0002762Multiple exostoses1MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare45
HP:0100777HP:0002762Multiple exostoses1PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS291
HP:0100777HP:0002762Multiple exostoses1SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0100777HP:0002762Multiple exostoses1TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2171
HP:0100777HP:0003986Exostoses of the radius2 CL E G H
HP:0100777HP:0003985Exostoses of the ulna2 CL E G H
HP:0100777HP:0003872Humeral exostoses2 CL E G H
HP:0100777HP:0005039Multiple long-bone exostoses2EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent96
HP:0100777HP:0005655Multiple digital exostoses2PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS.291
HP:0100777HP:0005039Multiple long-bone exostoses2TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent171
HP:0100777HP:0004017Exostoses of the radial metaphysis3 CL E G H


Genes (19) :ACAN AKT1 ALX4 ATP7A CHRNG COL11A2 COL2A1 EXT1 EXT2 IDH1 IDH2 IPO8 MSX2 PHF21A PTEN PTPN11 RAD21 SHOX TRPS1

Diseases (23) :OMIM:165800 ORPHA:744 ORPHA:60015 ORPHA:52022 ORPHA:565 OMIM:304150 ORPHA:198 OMIM:265000 ORPHA:166100 ORPHA:85198 OMIM:133700 ORPHA:321 ORPHA:502 OMIM:133701 ORPHA:466926 ORPHA:163634 OMIM:619472 ORPHA:2969 OMIM:156250 ORPHA:2499 OMIM:614701 ORPHA:240 OMIM:127300
 

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