Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skeletal morphology (HP:0011842)help
Grandparent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
Parent Node:
expand
Neoplasm of the skeletal system (HP:0010622)help
..Starting node
..expand
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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100777HP:0100777Exostoses0ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM164319155760
HP:0100777HP:0100777Exostoses0ALX4 CL E G H6052952022ORPHA127450605420
HP:0100777HP:0100777Exostoses0ATP7A CL E G H538565ORPHA1357869300011
HP:0100777HP:0100777Exostoses0ATP7A CL E G H538198ORPHA1357869300011
HP:0100777HP:0100777Exostoses0COL2A1 CL E G H128085198ORPHA15702200120140
HP:0100777HP:0100777Exostoses0EXT2 CL E G H213252022ORPHA12583513608210
HP:0100777HP:0100777Exostoses0IDH1 CL E G H3417163634ORPHA155382147700
HP:0100777HP:0100777Exostoses0IDH2 CL E G H3418163634ORPHA175383147650
HP:0100777HP:0100777Exostoses0LMX1B CL E G H40102614ORPHA11956654602575
HP:0100777HP:0100777Exostoses0PHF21A CL E G H5131752022ORPHA11224156608325
HP:0100777HP:0100777Exostoses0PTEN CL E G H57282969ORPHA16589588601728
HP:0100777HP:0100777Exostoses0PTPN11 CL E G H57812499ORPHA11439644176876
HP:0100777HP:0100777Exostoses0RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM1139811606462
HP:0100777HP:0100777Exostoses0SHOX CL E G H6473240Say Carpenter syndromeORPHA143310853312865
HP:0100777HP:0100777Exostoses1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM164319155760
HP:0100777HP:0100777Exostoses1ALX4 CL E G H6052952022ORPHA127450605420
HP:0100777HP:0100777Exostoses1ATP7A CL E G H538565ORPHA1357869300011
HP:0100777HP:0100777Exostoses1ATP7A CL E G H538198ORPHA1357869300011
HP:0100777HP:0100777Exostoses1COL2A1 CL E G H128085198ORPHA15702200120140
HP:0100777HP:0100777Exostoses1EXT2 CL E G H213252022ORPHA12583513608210
HP:0100777HP:0100777Exostoses1IDH1 CL E G H3417163634ORPHA155382147700
HP:0100777HP:0100777Exostoses1IDH2 CL E G H3418163634ORPHA175383147650
HP:0100777HP:0100777Exostoses1LMX1B CL E G H40102614ORPHA11956654602575
HP:0100777HP:0100777Exostoses1PHF21A CL E G H5131752022ORPHA11224156608325
HP:0100777HP:0100777Exostoses1PTEN CL E G H57282969ORPHA16589588601728
HP:0100777HP:0100777Exostoses1PTPN11 CL E G H57812499ORPHA11439644176876
HP:0100777HP:0100777Exostoses1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM1139811606462
HP:0100777HP:0100777Exostoses1SHOX CL E G H6473240Say Carpenter syndromeORPHA143310853312865
HP:0100777HP:0100777Exostoses2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM164319155760
HP:0100777HP:0100777Exostoses2ALX4 CL E G H6052952022ORPHA127450605420
HP:0100777HP:0100777Exostoses2ATP7A CL E G H538565ORPHA1357869300011
HP:0100777HP:0100777Exostoses2ATP7A CL E G H538198ORPHA1357869300011
HP:0100777HP:0100777Exostoses2COL2A1 CL E G H128085198ORPHA15702200120140
HP:0100777HP:0100777Exostoses2EXT2 CL E G H213252022ORPHA12583513608210
HP:0100777HP:0100777Exostoses2IDH1 CL E G H3417163634ORPHA155382147700
HP:0100777HP:0100777Exostoses2IDH2 CL E G H3418163634ORPHA175383147650
HP:0100777HP:0100777Exostoses2LMX1B CL E G H40102614ORPHA11956654602575
HP:0100777HP:0100777Exostoses2PHF21A CL E G H5131752022ORPHA11224156608325
HP:0100777HP:0100777Exostoses2PTEN CL E G H57282969ORPHA16589588601728
HP:0100777HP:0100777Exostoses2PTPN11 CL E G H57812499ORPHA11439644176876
HP:0100777HP:0100777Exostoses2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM1139811606462
HP:0100777HP:0100777Exostoses2SHOX CL E G H6473240Say Carpenter syndromeORPHA143310853312865
HP:0100777HP:0100777Exostoses3ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM164319155760
HP:0100777HP:0100777Exostoses3ALX4 CL E G H6052952022ORPHA127450605420
HP:0100777HP:0100777Exostoses3ATP7A CL E G H538565ORPHA1357869300011
HP:0100777HP:0100777Exostoses3ATP7A CL E G H538198ORPHA1357869300011
HP:0100777HP:0100777Exostoses3COL2A1 CL E G H128085198ORPHA15702200120140
HP:0100777HP:0100777Exostoses3EXT2 CL E G H213252022ORPHA12583513608210
HP:0100777HP:0100777Exostoses3IDH1 CL E G H3417163634ORPHA155382147700
HP:0100777HP:0100777Exostoses3IDH2 CL E G H3418163634ORPHA175383147650
HP:0100777HP:0100777Exostoses3LMX1B CL E G H40102614ORPHA11956654602575
HP:0100777HP:0100777Exostoses3PHF21A CL E G H5131752022ORPHA11224156608325
HP:0100777HP:0100777Exostoses3PTEN CL E G H57282969ORPHA16589588601728
HP:0100777HP:0100777Exostoses3PTPN11 CL E G H57812499ORPHA11439644176876
HP:0100777HP:0100777Exostoses3RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM1139811606462
HP:0100777HP:0100777Exostoses3SHOX CL E G H6473240Say Carpenter syndromeORPHA143310853312865
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100777HP:0100777Exostoses0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012391164730
HP:0100777HP:0100777Exostoses0B3GALT6 CL E G H12679293359ORPHA04017978615291
HP:0100777HP:0100777Exostoses0COL11A2 CL E G H1302166100ORPHA0592187120290
HP:0100777HP:0100777Exostoses0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA06589588601728
HP:0100777HP:0100777Exostoses1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012391164730
HP:0100777HP:0100777Exostoses1B3GALT6 CL E G H12679293359ORPHA04017978615291
HP:0100777HP:0100777Exostoses1COL11A2 CL E G H1302166100ORPHA0592187120290
HP:0100777HP:0100777Exostoses1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA06589588601728
HP:0100777HP:0100777Exostoses2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012391164730
HP:0100777HP:0100777Exostoses2B3GALT6 CL E G H12679293359ORPHA04017978615291
HP:0100777HP:0100777Exostoses2COL11A2 CL E G H1302166100ORPHA0592187120290
HP:0100777HP:0100777Exostoses2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA06589588601728
HP:0100777HP:0100777Exostoses3AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012391164730
HP:0100777HP:0100777Exostoses3B3GALT6 CL E G H12679293359ORPHA04017978615291
HP:0100777HP:0100777Exostoses3COL11A2 CL E G H1302166100ORPHA0592187120290
HP:0100777HP:0100777Exostoses3PTEN CL E G H5728744Aortic valves stenosis of the childORPHA06589588601728


Genes (19) :ACAN AKT1 ALX4 ATP7A B3GALT6 CHRNG COL11A2 COL2A1 EXT1 EXT2 IDH1 IDH2 LMX1B PHF21A PTEN PTPN11 RAD21 SHOX TRPS1

Diseases (22) :165800 744 52022 565 198 93359 166100 85198 163634 2614 2969 2499 614701 240 304150 265000 321 133700 133701 127300 502 156250
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.