Human Phenotype Ontology 
Grandparent Node:
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Abnormality of 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
..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 dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0100777Exostoses0ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0100777Exostoses0ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0100777Exostoses0ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0100777Exostoses0ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0100777Exostoses0ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0100777Exostoses0ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0100777Exostoses0ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0100777Exostoses0COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0100777Exostoses0COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0100777Exostoses0EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0100777Exostoses0EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0100777Exostoses0IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0100777Exostoses0IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0100777Exostoses0IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0100777Exostoses0IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0100777Exostoses0LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0100777Exostoses0LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0100777Exostoses0PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0100777Exostoses0PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0100777Exostoses0PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0100777Exostoses0PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0100777Exostoses0PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0100777Exostoses0PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0100777Exostoses0RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0100777Exostoses0RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0100777Exostoses0SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0100777Exostoses0SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0000896Rib exostoses1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0002762Multiple exostoses1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0004459Exostosis of the external auditory canal1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0000896Rib exostoses1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0002762Multiple exostoses1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0004459Exostosis of the external auditory canal1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0000918Scapular exostoses1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0003960Exostoses of the forearm bones1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0004276Exostoses of hand bones1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0003276Pelvic bone exostoses1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0000918Scapular exostoses1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0003960Exostoses of the forearm bones1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0004276Exostoses of hand bones1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0003276Pelvic bone exostoses1ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0000896Rib exostoses1ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0002762Multiple exostoses1ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0004459Exostosis of the external auditory canal1ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0000896Rib exostoses1ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0002762Multiple exostoses1ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0004459Exostosis of the external auditory canal1ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0003276Pelvic bone exostoses1ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0000918Scapular exostoses1ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0003960Exostoses of the forearm bones1ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0004276Exostoses of hand bones1ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0000918Scapular exostoses1ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0003960Exostoses of the forearm bones1ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0004276Exostoses of hand bones1ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0003276Pelvic bone exostoses1ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0000896Rib exostoses1ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0000896Rib exostoses1ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0002762Multiple exostoses1ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0002762Multiple exostoses1ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0004459Exostosis of the external auditory canal1ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0004459Exostosis of the external auditory canal1ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0000896Rib exostoses1ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0000896Rib exostoses1ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0002762Multiple exostoses1ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0002762Multiple exostoses1ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0004459Exostosis of the external auditory canal1ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0004459Exostosis of the external auditory canal1ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0003276Pelvic bone exostoses1ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0000918Scapular exostoses1ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0000918Scapular exostoses1ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0003960Exostoses of the forearm bones1ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0003960Exostoses of the forearm bones1ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0004276Exostoses of hand bones1ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0004276Exostoses of hand bones1ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0003276Pelvic bone exostoses1ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0000918Scapular exostoses1ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0000918Scapular exostoses1ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0003960Exostoses of the forearm bones1ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0003960Exostoses of the forearm bones1ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0004276Exostoses of hand bones1ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0004276Exostoses of hand bones1ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0003276Pelvic bone exostoses1ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0003276Pelvic bone exostoses1ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0004459Exostosis of the external auditory canal1COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0000896Rib exostoses1COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0002762Multiple exostoses1COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0004459Exostosis of the external auditory canal1COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0000896Rib exostoses1COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0002762Multiple exostoses1COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0003960Exostoses of the forearm bones1COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0004276Exostoses of hand bones1COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0003276Pelvic bone exostoses1COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0000918Scapular exostoses1COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0003960Exostoses of the forearm bones1COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0004276Exostoses of hand bones1COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0003276Pelvic bone exostoses1COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0000918Scapular exostoses1COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0004459Exostosis of the external auditory canal1EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0000896Rib exostoses1EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0002762Multiple exostoses1EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0004459Exostosis of the external auditory canal1EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0000896Rib exostoses1EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0002762Multiple exostoses1EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0003960Exostoses of the forearm bones1EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0004276Exostoses of hand bones1EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0003276Pelvic bone exostoses1EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0000918Scapular exostoses1EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0003960Exostoses of the forearm bones1EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0004276Exostoses of hand bones1EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0003276Pelvic bone exostoses1EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0000918Scapular exostoses1EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0004459Exostosis of the external auditory canal1IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0000896Rib exostoses1IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0002762Multiple exostoses1IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0004459Exostosis of the external auditory canal1IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0000896Rib exostoses1IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0002762Multiple exostoses1IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0003960Exostoses of the forearm bones1IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0004276Exostoses of hand bones1IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0003276Pelvic bone exostoses1IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0000918Scapular exostoses1IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0003960Exostoses of the forearm bones1IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0004276Exostoses of hand bones1IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0003276Pelvic bone exostoses1IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0000918Scapular exostoses1IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0000896Rib exostoses1IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0002762Multiple exostoses1IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0004459Exostosis of the external auditory canal1IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0000896Rib exostoses1IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0002762Multiple exostoses1IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0004459Exostosis of the external auditory canal1IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0003276Pelvic bone exostoses1IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0000918Scapular exostoses1IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0003960Exostoses of the forearm bones1IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0004276Exostoses of hand bones1IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0000918Scapular exostoses1IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0003960Exostoses of the forearm bones1IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0004276Exostoses of hand bones1IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0003276Pelvic bone exostoses1IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0000896Rib exostoses1LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0002762Multiple exostoses1LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0004459Exostosis of the external auditory canal1LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0000896Rib exostoses1LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0002762Multiple exostoses1LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0004459Exostosis of the external auditory canal1LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0003276Pelvic bone exostoses1LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0000918Scapular exostoses1LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0003960Exostoses of the forearm bones1LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0004276Exostoses of hand bones1LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0000918Scapular exostoses1LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0003960Exostoses of the forearm bones1LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0004276Exostoses of hand bones1LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0003276Pelvic bone exostoses1LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0000896Rib exostoses1PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0002762Multiple exostoses1PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0004459Exostosis of the external auditory canal1PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0000896Rib exostoses1PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0002762Multiple exostoses1PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0004459Exostosis of the external auditory canal1PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0003276Pelvic bone exostoses1PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0000918Scapular exostoses1PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0003960Exostoses of the forearm bones1PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0004276Exostoses of hand bones1PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0000918Scapular exostoses1PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0003960Exostoses of the forearm bones1PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0004276Exostoses of hand bones1PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0003276Pelvic bone exostoses1PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0004459Exostosis of the external auditory canal1PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0000896Rib exostoses1PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0002762Multiple exostoses1PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0004459Exostosis of the external auditory canal1PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0000896Rib exostoses1PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0002762Multiple exostoses1PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0003960Exostoses of the forearm bones1PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0004276Exostoses of hand bones1PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0003276Pelvic bone exostoses1PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0000918Scapular exostoses1PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0003960Exostoses of the forearm bones1PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0004276Exostoses of hand bones1PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0003276Pelvic bone exostoses1PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0000918Scapular exostoses1PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0004459Exostosis of the external auditory canal1PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0000896Rib exostoses1PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0002762Multiple exostoses1PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0004459Exostosis of the external auditory canal1PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0000896Rib exostoses1PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0002762Multiple exostoses1PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0003960Exostoses of the forearm bones1PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0004276Exostoses of hand bones1PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0003276Pelvic bone exostoses1PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0000918Scapular exostoses1PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0003960Exostoses of the forearm bones1PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0004276Exostoses of hand bones1PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0003276Pelvic bone exostoses1PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0000918Scapular exostoses1PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0004459Exostosis of the external auditory canal1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0000896Rib exostoses1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0002762Multiple exostoses1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0004459Exostosis of the external auditory canal1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0000896Rib exostoses1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0002762Multiple exostoses1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0003960Exostoses of the forearm bones1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0004276Exostoses of hand bones1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0003276Pelvic bone exostoses1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0000918Scapular exostoses1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0003960Exostoses of the forearm bones1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0004276Exostoses of hand bones1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0003276Pelvic bone exostoses1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0000918Scapular exostoses1RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0004459Exostosis of the external auditory canal1SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0000896Rib exostoses1SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0002762Multiple exostoses1SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0004459Exostosis of the external auditory canal1SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0000896Rib exostoses1SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0002762Multiple exostoses1SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0003960Exostoses of the forearm bones1SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0004276Exostoses of hand bones1SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0003276Pelvic bone exostoses1SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0000918Scapular exostoses1SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0003960Exostoses of the forearm bones1SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0004276Exostoses of hand bones1SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0003276Pelvic bone exostoses1SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0000918Scapular exostoses1SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0003985Exostoses of the ulna2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0005039Multiple long-bone exostoses2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0003872Humeral exostoses2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0003985Exostoses of the ulna2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0005039Multiple long-bone exostoses2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0003872Humeral exostoses2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0003986Exostoses of the radius2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0005655Multiple digital exostoses2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0003986Exostoses of the radius2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0005655Multiple digital exostoses2ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0003985Exostoses of the ulna2ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0005039Multiple long-bone exostoses2ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0003872Humeral exostoses2ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0003985Exostoses of the ulna2ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0005039Multiple long-bone exostoses2ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0003872Humeral exostoses2ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0003986Exostoses of the radius2ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0005655Multiple digital exostoses2ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0003986Exostoses of the radius2ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0005655Multiple digital exostoses2ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0003985Exostoses of the ulna2ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0003985Exostoses of the ulna2ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0005039Multiple long-bone exostoses2ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0005039Multiple long-bone exostoses2ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0003872Humeral exostoses2ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0003872Humeral exostoses2ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0003985Exostoses of the ulna2ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0003985Exostoses of the ulna2ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0005039Multiple long-bone exostoses2ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0005039Multiple long-bone exostoses2ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0003872Humeral exostoses2ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0003872Humeral exostoses2ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0003986Exostoses of the radius2ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0003986Exostoses of the radius2ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0005655Multiple digital exostoses2ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0005655Multiple digital exostoses2ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0003986Exostoses of the radius2ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0003986Exostoses of the radius2ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0005655Multiple digital exostoses2ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0005655Multiple digital exostoses2ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0003985Exostoses of the ulna2COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0005039Multiple long-bone exostoses2COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0003872Humeral exostoses2COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0005039Multiple long-bone exostoses2COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0003872Humeral exostoses2COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0003985Exostoses of the ulna2COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0003986Exostoses of the radius2COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0005655Multiple digital exostoses2COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0003986Exostoses of the radius2COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0005655Multiple digital exostoses2COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0005039Multiple long-bone exostoses2EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0003872Humeral exostoses2EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0003985Exostoses of the ulna2EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0005039Multiple long-bone exostoses2EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0003872Humeral exostoses2EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0003985Exostoses of the ulna2EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0003986Exostoses of the radius2EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0005655Multiple digital exostoses2EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0003986Exostoses of the radius2EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0005655Multiple digital exostoses2EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0003985Exostoses of the ulna2IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0005039Multiple long-bone exostoses2IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0003872Humeral exostoses2IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0005039Multiple long-bone exostoses2IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0003872Humeral exostoses2IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0003985Exostoses of the ulna2IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0003986Exostoses of the radius2IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0005655Multiple digital exostoses2IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0003986Exostoses of the radius2IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0005655Multiple digital exostoses2IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0003985Exostoses of the ulna2IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0003872Humeral exostoses2IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0005039Multiple long-bone exostoses2IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0003985Exostoses of the ulna2IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0005039Multiple long-bone exostoses2IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0003872Humeral exostoses2IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0003986Exostoses of the radius2IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0005655Multiple digital exostoses2IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0003986Exostoses of the radius2IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0005655Multiple digital exostoses2IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0003985Exostoses of the ulna2LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0005039Multiple long-bone exostoses2LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0003872Humeral exostoses2LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0003985Exostoses of the ulna2LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0005039Multiple long-bone exostoses2LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0003872Humeral exostoses2LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0003986Exostoses of the radius2LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0005655Multiple digital exostoses2LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0003986Exostoses of the radius2LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0005655Multiple digital exostoses2LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0003985Exostoses of the ulna2PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0005039Multiple long-bone exostoses2PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0003872Humeral exostoses2PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0003985Exostoses of the ulna2PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0005039Multiple long-bone exostoses2PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0003872Humeral exostoses2PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0003986Exostoses of the radius2PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0005655Multiple digital exostoses2PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0003986Exostoses of the radius2PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0005655Multiple digital exostoses2PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0005039Multiple long-bone exostoses2PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0003872Humeral exostoses2PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0003985Exostoses of the ulna2PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0005039Multiple long-bone exostoses2PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0003872Humeral exostoses2PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0003985Exostoses of the ulna2PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0003986Exostoses of the radius2PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0005655Multiple digital exostoses2PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0003986Exostoses of the radius2PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0005655Multiple digital exostoses2PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0005039Multiple long-bone exostoses2PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0003872Humeral exostoses2PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0003985Exostoses of the ulna2PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0005039Multiple long-bone exostoses2PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0003872Humeral exostoses2PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0003985Exostoses of the ulna2PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0003986Exostoses of the radius2PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0005655Multiple digital exostoses2PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0003986Exostoses of the radius2PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0005655Multiple digital exostoses2PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0005039Multiple long-bone exostoses2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0003872Humeral exostoses2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0003985Exostoses of the ulna2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0003872Humeral exostoses2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0003985Exostoses of the ulna2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0005039Multiple long-bone exostoses2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0003986Exostoses of the radius2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0005655Multiple digital exostoses2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0003986Exostoses of the radius2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0005655Multiple digital exostoses2RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0005039Multiple long-bone exostoses2SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0003872Humeral exostoses2SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0003985Exostoses of the ulna2SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0003872Humeral exostoses2SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0003985Exostoses of the ulna2SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0005039Multiple long-bone exostoses2SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0003986Exostoses of the radius2SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0005655Multiple digital exostoses2SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0003986Exostoses of the radius2SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0005655Multiple digital exostoses2SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0100777HP:0004017Exostoses of the radial metaphysis3ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0100777HP:0004017Exostoses of the radial metaphysis3ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0100777HP:0004017Exostoses of the radial metaphysis3ALX4 CL E G H6052952022ORPHA1246450605420
HP:0100777HP:0004017Exostoses of the radial metaphysis3ALX4 CL E G H6052952022ORPHA1245450605420
HP:0100777HP:0004017Exostoses of the radial metaphysis3ATP7A CL E G H538198ORPHA11003869300011
HP:0100777HP:0004017Exostoses of the radial metaphysis3ATP7A CL E G H538565ORPHA11003869300011
HP:0100777HP:0004017Exostoses of the radial metaphysis3ATP7A CL E G H538198ORPHA1897869300011
HP:0100777HP:0004017Exostoses of the radial metaphysis3ATP7A CL E G H538565ORPHA1897869300011
HP:0100777HP:0004017Exostoses of the radial metaphysis3COL2A1 CL E G H128085198ORPHA115402200120140
HP:0100777HP:0004017Exostoses of the radial metaphysis3COL2A1 CL E G H128085198ORPHA112132200120140
HP:0100777HP:0004017Exostoses of the radial metaphysis3EXT2 CL E G H213252022ORPHA14663513608210
HP:0100777HP:0004017Exostoses of the radial metaphysis3EXT2 CL E G H213252022ORPHA13793513608210
HP:0100777HP:0004017Exostoses of the radial metaphysis3IDH1 CL E G H3417163634ORPHA1695382147700
HP:0100777HP:0004017Exostoses of the radial metaphysis3IDH1 CL E G H3417163634ORPHA1685382147700
HP:0100777HP:0004017Exostoses of the radial metaphysis3IDH2 CL E G H3418163634ORPHA11625383147650
HP:0100777HP:0004017Exostoses of the radial metaphysis3IDH2 CL E G H3418163634ORPHA11405383147650
HP:0100777HP:0004017Exostoses of the radial metaphysis3LMX1B CL E G H40102614ORPHA14306654602575
HP:0100777HP:0004017Exostoses of the radial metaphysis3LMX1B CL E G H40102614ORPHA13746654602575
HP:0100777HP:0004017Exostoses of the radial metaphysis3PHF21A CL E G H5131752022ORPHA17024156608325
HP:0100777HP:0004017Exostoses of the radial metaphysis3PHF21A CL E G H5131752022ORPHA15624156608325
HP:0100777HP:0004017Exostoses of the radial metaphysis3PTEN CL E G H57282969ORPHA124169588601728
HP:0100777HP:0004017Exostoses of the radial metaphysis3PTEN CL E G H57282969ORPHA122469588601728
HP:0100777HP:0004017Exostoses of the radial metaphysis3PTPN11 CL E G H57812499ORPHA16299644176876
HP:0100777HP:0004017Exostoses of the radial metaphysis3PTPN11 CL E G H57812499ORPHA15659644176876
HP:0100777HP:0004017Exostoses of the radial metaphysis3RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12549811606462
HP:0100777HP:0004017Exostoses of the radial metaphysis3RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM12399811606462
HP:0100777HP:0004017Exostoses of the radial metaphysis3SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0100777HP:0004017Exostoses of the radial metaphysis3SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100777HP:0100777Exostoses0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0100777Exostoses0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0100777Exostoses0B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0100777Exostoses0B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0100777Exostoses0COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0100777Exostoses0COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0100777Exostoses0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0100777Exostoses0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0004459Exostosis of the external auditory canal1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0000896Rib exostoses1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0002762Multiple exostoses1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0004459Exostosis of the external auditory canal1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0000896Rib exostoses1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0002762Multiple exostoses1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0003960Exostoses of the forearm bones1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0004276Exostoses of hand bones1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0003276Pelvic bone exostoses1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0000918Scapular exostoses1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0003960Exostoses of the forearm bones1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0004276Exostoses of hand bones1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0003276Pelvic bone exostoses1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0000918Scapular exostoses1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0000896Rib exostoses1B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0002762Multiple exostoses1B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0004459Exostosis of the external auditory canal1B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0000896Rib exostoses1B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0002762Multiple exostoses1B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0004459Exostosis of the external auditory canal1B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0003276Pelvic bone exostoses1B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0000918Scapular exostoses1B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0003960Exostoses of the forearm bones1B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0004276Exostoses of hand bones1B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0000918Scapular exostoses1B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0003960Exostoses of the forearm bones1B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0004276Exostoses of hand bones1B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0003276Pelvic bone exostoses1B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0003960Exostoses of the forearm bones1COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0004276Exostoses of hand bones1COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0003276Pelvic bone exostoses1COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0000918Scapular exostoses1COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0004459Exostosis of the external auditory canal1COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0000896Rib exostoses1COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0002762Multiple exostoses1COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0004459Exostosis of the external auditory canal1COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0000896Rib exostoses1COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0002762Multiple exostoses1COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0003960Exostoses of the forearm bones1COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0004276Exostoses of hand bones1COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0003276Pelvic bone exostoses1COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0000918Scapular exostoses1COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0000896Rib exostoses1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0002762Multiple exostoses1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0004459Exostosis of the external auditory canal1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0000896Rib exostoses1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0002762Multiple exostoses1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0004459Exostosis of the external auditory canal1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0003276Pelvic bone exostoses1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0000918Scapular exostoses1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0003960Exostoses of the forearm bones1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0004276Exostoses of hand bones1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0000918Scapular exostoses1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0003960Exostoses of the forearm bones1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0004276Exostoses of hand bones1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0003276Pelvic bone exostoses1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0005039Multiple long-bone exostoses2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0003872Humeral exostoses2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0003985Exostoses of the ulna2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0003872Humeral exostoses2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0003985Exostoses of the ulna2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0005039Multiple long-bone exostoses2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0003986Exostoses of the radius2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0005655Multiple digital exostoses2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0003986Exostoses of the radius2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0005655Multiple digital exostoses2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0003985Exostoses of the ulna2B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0005039Multiple long-bone exostoses2B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0003872Humeral exostoses2B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0003985Exostoses of the ulna2B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0005039Multiple long-bone exostoses2B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0003872Humeral exostoses2B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0003986Exostoses of the radius2B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0005655Multiple digital exostoses2B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0003986Exostoses of the radius2B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0005655Multiple digital exostoses2B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0003986Exostoses of the radius2COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0005655Multiple digital exostoses2COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0003985Exostoses of the ulna2COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0005039Multiple long-bone exostoses2COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0003872Humeral exostoses2COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0005039Multiple long-bone exostoses2COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0003872Humeral exostoses2COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0003985Exostoses of the ulna2COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0005655Multiple digital exostoses2COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0003986Exostoses of the radius2COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0003985Exostoses of the ulna2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0005039Multiple long-bone exostoses2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0003872Humeral exostoses2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0003985Exostoses of the ulna2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0005039Multiple long-bone exostoses2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0003872Humeral exostoses2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0003986Exostoses of the radius2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0005655Multiple digital exostoses2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0003986Exostoses of the radius2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0005655Multiple digital exostoses2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728
HP:0100777HP:0004017Exostoses of the radial metaphysis3AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0417391164730
HP:0100777HP:0004017Exostoses of the radial metaphysis3AKT1 CL E G H207744Aortic valves stenosis of the childORPHA0380391164730
HP:0100777HP:0004017Exostoses of the radial metaphysis3B3GALT6 CL E G H12679293359ORPHA033717978615291
HP:0100777HP:0004017Exostoses of the radial metaphysis3B3GALT6 CL E G H12679293359ORPHA028117978615291
HP:0100777HP:0004017Exostoses of the radial metaphysis3COL11A2 CL E G H1302166100ORPHA09742187120290
HP:0100777HP:0004017Exostoses of the radial metaphysis3COL11A2 CL E G H1302166100ORPHA07052187120290
HP:0100777HP:0004017Exostoses of the radial metaphysis3PTEN CL E G H5728744Aortic valves stenosis of the childORPHA024169588601728
HP:0100777HP:0004017Exostoses of the radial metaphysis3PTEN CL E G H5728744Aortic valves stenosis of the childORPHA022469588601728


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 198 565 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 August 2021 release.