Human Phenotype Ontology 
Grandparent Node:
expand
Neoplasm (HP:0002664)help
Parent Node:
expand
Abnormality of skeletal morphology (HP:0011842)help
Parent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
..Starting node
..expand
Neoplasm of the skeletal system (HP:0010622)help
Term ID: 10622
Name: Neoplasm of the skeletal system
Synonym: Bone neoplasm; Neoplasia of the skeletal system; Skeletal tumor; Skeletal tumour
Definition: A tumor (abnormal growth of tissue) of the skeleton.
Comments:
Reference: HP:0010622
Genes and Diseases:
 
       Child Nodes:
........expandOsteosarcoma (HP:0002669) help
........expandChondrosarcoma (HP:0006765) help
........expandChordoma (HP:0010762) help
........expandOsteoblastoma (HP:0011846) help
........expandGiant cell tumor of bone (HP:0011847) help
........expandEnchondroma (HP:0030038) help
................... HP:0005701 Multiple enchondromatosis
........expandOsteochondroma (HP:0030431) help
........expandChondroblastoma (HP:0030432) help
........expandOsteoma (HP:0100246) help
................... HP:0030433 Osteoid osteoma
........expandExostoses (HP:0100777) help
................... HP:0000896 Rib exostoses
................... HP:0000918 Scapular exostoses
................... HP:0002762 Multiple exostoses
................... HP:0003276 Pelvic bone exostoses
................... HP:0003960 Exostoses of the forearm bones
................... HP:0004276 Exostoses of hand bones
................... HP:0004459 Exostosis of the external auditory canal

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010622HP:0010622Neoplasm of the skeletal system0FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0010622Neoplasm of the skeletal system0FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0010622Neoplasm of the skeletal system0KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0010622Neoplasm of the skeletal system0KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0006765Chondrosarcoma1FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0100246Osteoma1FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0030038Enchondroma1FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0002669Osteosarcoma1FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0011846Osteoblastoma1FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0030431Osteochondroma1FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0010762Chordoma1FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0100777Exostoses1FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0011847Giant cell tumor of bone1FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0030432Chondroblastoma1FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0030431Osteochondroma1FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0010762Chordoma1FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0100777Exostoses1FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0011847Giant cell tumor of bone1FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0030432Chondroblastoma1FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0006765Chondrosarcoma1FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0100246Osteoma1FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0030038Enchondroma1FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0002669Osteosarcoma1FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0011846Osteoblastoma1FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0030038Enchondroma1KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0002669Osteosarcoma1KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0011846Osteoblastoma1KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0006765Chondrosarcoma1KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0100246Osteoma1KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0100777Exostoses1KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0011847Giant cell tumor of bone1KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0030432Chondroblastoma1KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0030431Osteochondroma1KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0010762Chordoma1KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0100777Exostoses1KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0011847Giant cell tumor of bone1KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0030432Chondroblastoma1KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0030431Osteochondroma1KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0010762Chordoma1KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0030038Enchondroma1KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0002669Osteosarcoma1KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0011846Osteoblastoma1KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0006765Chondrosarcoma1KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0100246Osteoma1KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0004459Exostosis of the external auditory canal2FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0002762Multiple exostoses2FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0000896Rib exostoses2FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0005701Multiple enchondromatosis2FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0003960Exostoses of the forearm bones2FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0030433Osteoid osteoma2FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0004276Exostoses of hand bones2FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0003276Pelvic bone exostoses2FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0000918Scapular exostoses2FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0003960Exostoses of the forearm bones2FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0030433Osteoid osteoma2FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0004276Exostoses of hand bones2FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0003276Pelvic bone exostoses2FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0000918Scapular exostoses2FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0004459Exostosis of the external auditory canal2FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0002762Multiple exostoses2FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0000896Rib exostoses2FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0005701Multiple enchondromatosis2FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0004459Exostosis of the external auditory canal2KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0002762Multiple exostoses2KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0000896Rib exostoses2KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0005701Multiple enchondromatosis2KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0030433Osteoid osteoma2KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0004276Exostoses of hand bones2KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0003276Pelvic bone exostoses2KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0000918Scapular exostoses2KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0003960Exostoses of the forearm bones2KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0030433Osteoid osteoma2KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0004276Exostoses of hand bones2KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0003276Pelvic bone exostoses2KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0000918Scapular exostoses2KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0003960Exostoses of the forearm bones2KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0004459Exostosis of the external auditory canal2KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0002762Multiple exostoses2KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0000896Rib exostoses2KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0005701Multiple enchondromatosis2KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0003872Humeral exostoses3FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0005039Multiple long-bone exostoses3FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0003985Exostoses of the ulna3FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0005655Multiple digital exostoses3FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0003986Exostoses of the radius3FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0005655Multiple digital exostoses3FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0003986Exostoses of the radius3FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0003985Exostoses of the ulna3FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0003872Humeral exostoses3FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0005039Multiple long-bone exostoses3FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0005039Multiple long-bone exostoses3KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0003985Exostoses of the ulna3KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0003872Humeral exostoses3KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0005655Multiple digital exostoses3KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0003986Exostoses of the radius3KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0005655Multiple digital exostoses3KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0003986Exostoses of the radius3KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0003872Humeral exostoses3KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0005039Multiple long-bone exostoses3KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0003985Exostoses of the ulna3KRAS CL E G H38452396ORPHA13416407190070
HP:0010622HP:0004017Exostoses of the radial metaphysis4FGFR1 CL E G H22602396ORPHA15303688136350
HP:0010622HP:0004017Exostoses of the radial metaphysis4FGFR1 CL E G H22602396ORPHA15973688136350
HP:0010622HP:0004017Exostoses of the radial metaphysis4KRAS CL E G H38452396ORPHA13316407190070
HP:0010622HP:0004017Exostoses of the radial metaphysis4KRAS CL E G H38452396ORPHA13416407190070
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010622HP:0010622Neoplasm of the skeletal system0EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0010622Neoplasm of the skeletal system0EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0010622Neoplasm of the skeletal system0FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0010622Neoplasm of the skeletal system0FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0010622Neoplasm of the skeletal system0KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0010622Neoplasm of the skeletal system0KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0010622Neoplasm of the skeletal system0MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0010622Neoplasm of the skeletal system0MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0010622Neoplasm of the skeletal system0MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0010622Neoplasm of the skeletal system0MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0010622Neoplasm of the skeletal system0MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0010622Neoplasm of the skeletal system0MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0010622Neoplasm of the skeletal system0MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0010622Neoplasm of the skeletal system0MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0010622Neoplasm of the skeletal system0PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0010622Neoplasm of the skeletal system0PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0010622Neoplasm of the skeletal system0PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0010622Neoplasm of the skeletal system0PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0010622Neoplasm of the skeletal system0PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0010622Neoplasm of the skeletal system0PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0010622Neoplasm of the skeletal system0TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0010622Neoplasm of the skeletal system0TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0011847Giant cell tumor of bone1EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0030432Chondroblastoma1EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0030431Osteochondroma1EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0010762Chordoma1EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0100777Exostoses1EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0011847Giant cell tumor of bone1EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0030432Chondroblastoma1EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0030431Osteochondroma1EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0010762Chordoma1EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0100777Exostoses1EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0011846Osteoblastoma1EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0006765Chondrosarcoma1EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0100246Osteoma1EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0030038Enchondroma1EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0002669Osteosarcoma1EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0011846Osteoblastoma1EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0006765Chondrosarcoma1EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0100246Osteoma1EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0030038Enchondroma1EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0002669Osteosarcoma1EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0030432Chondroblastoma1FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0030431Osteochondroma1FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0010762Chordoma1FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0100777Exostoses1FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0011847Giant cell tumor of bone1FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0030431Osteochondroma1FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0010762Chordoma1FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0100777Exostoses1FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0011847Giant cell tumor of bone1FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0030432Chondroblastoma1FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0011846Osteoblastoma1FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0006765Chondrosarcoma1FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0100246Osteoma1FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0030038Enchondroma1FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0002669Osteosarcoma1FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0006765Chondrosarcoma1FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0100246Osteoma1FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0030038Enchondroma1FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0002669Osteosarcoma1FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0011846Osteoblastoma1FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0010762Chordoma1KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0100777Exostoses1KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0011847Giant cell tumor of bone1KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0030432Chondroblastoma1KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0030431Osteochondroma1KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0100777Exostoses1KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0011847Giant cell tumor of bone1KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0030432Chondroblastoma1KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0030431Osteochondroma1KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0010762Chordoma1KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0100246Osteoma1KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0030038Enchondroma1KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0002669Osteosarcoma1KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0011846Osteoblastoma1KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0006765Chondrosarcoma1KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0030038Enchondroma1KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0002669Osteosarcoma1KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0011846Osteoblastoma1KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0006765Chondrosarcoma1KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0100246Osteoma1KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0100777Exostoses1MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0011847Giant cell tumor of bone1MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0030432Chondroblastoma1MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0030431Osteochondroma1MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0010762Chordoma1MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0100777Exostoses1MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0011847Giant cell tumor of bone1MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0030432Chondroblastoma1MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0030431Osteochondroma1MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0010762Chordoma1MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0002669Osteosarcoma1MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0011846Osteoblastoma1MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0006765Chondrosarcoma1MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0100246Osteoma1MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0030038Enchondroma1MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0011846Osteoblastoma1MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0006765Chondrosarcoma1MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0100246Osteoma1MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0030038Enchondroma1MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0002669Osteosarcoma1MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0011847Giant cell tumor of bone1MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0030432Chondroblastoma1MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0030431Osteochondroma1MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0010762Chordoma1MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0100777Exostoses1MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0011847Giant cell tumor of bone1MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0030432Chondroblastoma1MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0030431Osteochondroma1MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0010762Chordoma1MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0100777Exostoses1MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0011846Osteoblastoma1MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0006765Chondrosarcoma1MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0100246Osteoma1MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0030038Enchondroma1MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0002669Osteosarcoma1MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0011846Osteoblastoma1MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0006765Chondrosarcoma1MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0100246Osteoma1MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0030038Enchondroma1MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0002669Osteosarcoma1MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0011847Giant cell tumor of bone1MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0030432Chondroblastoma1MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0030431Osteochondroma1MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0010762Chordoma1MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0100777Exostoses1MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0011847Giant cell tumor of bone1MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0030432Chondroblastoma1MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0030431Osteochondroma1MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0010762Chordoma1MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0100777Exostoses1MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0011846Osteoblastoma1MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0006765Chondrosarcoma1MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0100246Osteoma1MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0030038Enchondroma1MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0002669Osteosarcoma1MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0011846Osteoblastoma1MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0006765Chondrosarcoma1MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0100246Osteoma1MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0030038Enchondroma1MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0002669Osteosarcoma1MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0030432Chondroblastoma1MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0030431Osteochondroma1MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0010762Chordoma1MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0100777Exostoses1MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0011847Giant cell tumor of bone1MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0030431Osteochondroma1MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0010762Chordoma1MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0100777Exostoses1MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0011847Giant cell tumor of bone1MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0030432Chondroblastoma1MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0006765Chondrosarcoma1MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0100246Osteoma1MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0030038Enchondroma1MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0002669Osteosarcoma1MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0011846Osteoblastoma1MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0006765Chondrosarcoma1MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0100246Osteoma1MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0030038Enchondroma1MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0002669Osteosarcoma1MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0011846Osteoblastoma1MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0010762Chordoma1PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0100777Exostoses1PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0011847Giant cell tumor of bone1PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0030432Chondroblastoma1PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0030431Osteochondroma1PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0100777Exostoses1PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0011847Giant cell tumor of bone1PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0030432Chondroblastoma1PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0030431Osteochondroma1PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0010762Chordoma1PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0030038Enchondroma1PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0002669Osteosarcoma1PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0011846Osteoblastoma1PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0006765Chondrosarcoma1PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0100246Osteoma1PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0030038Enchondroma1PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0002669Osteosarcoma1PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0011846Osteoblastoma1PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0006765Chondrosarcoma1PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0100246Osteoma1PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0100777Exostoses1PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0011847Giant cell tumor of bone1PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0030432Chondroblastoma1PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0030431Osteochondroma1PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0010762Chordoma1PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0011847Giant cell tumor of bone1PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0030432Chondroblastoma1PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0030431Osteochondroma1PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0010762Chordoma1PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0100777Exostoses1PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0011846Osteoblastoma1PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0006765Chondrosarcoma1PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0100246Osteoma1PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0030038Enchondroma1PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0002669Osteosarcoma1PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0011846Osteoblastoma1PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0006765Chondrosarcoma1PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0100246Osteoma1PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0030038Enchondroma1PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0002669Osteosarcoma1PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0011846Osteoblastoma1PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0006765Chondrosarcoma1PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0100246Osteoma1PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0030038Enchondroma1PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0002669Osteosarcoma1PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0011847Giant cell tumor of bone1PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0030432Chondroblastoma1PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0030431Osteochondroma1PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0010762Chordoma1PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0100777Exostoses1PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0011847Giant cell tumor of bone1PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0030432Chondroblastoma1PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0030431Osteochondroma1PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0010762Chordoma1PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0100777Exostoses1PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0011846Osteoblastoma1PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0006765Chondrosarcoma1PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0100246Osteoma1PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0030038Enchondroma1PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0002669Osteosarcoma1PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0011846Osteoblastoma1TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0006765Chondrosarcoma1TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0100246Osteoma1TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0030038Enchondroma1TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0002669Osteosarcoma1TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0011847Giant cell tumor of bone1TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0030432Chondroblastoma1TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0030431Osteochondroma1TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0010762Chordoma1TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0100777Exostoses1TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0030432Chondroblastoma1TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0030431Osteochondroma1TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0010762Chordoma1TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0100777Exostoses1TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0011847Giant cell tumor of bone1TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0011846Osteoblastoma1TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0006765Chondrosarcoma1TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0100246Osteoma1TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0030038Enchondroma1TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0002669Osteosarcoma1TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0000918Scapular exostoses2EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0003960Exostoses of the forearm bones2EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0030433Osteoid osteoma2EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0004276Exostoses of hand bones2EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0003276Pelvic bone exostoses2EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0003960Exostoses of the forearm bones2EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0030433Osteoid osteoma2EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0004276Exostoses of hand bones2EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0003276Pelvic bone exostoses2EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0000918Scapular exostoses2EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0005701Multiple enchondromatosis2EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0004459Exostosis of the external auditory canal2EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0002762Multiple exostoses2EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0000896Rib exostoses2EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0005701Multiple enchondromatosis2EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0004459Exostosis of the external auditory canal2EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0002762Multiple exostoses2EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0000896Rib exostoses2EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0003960Exostoses of the forearm bones2FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0030433Osteoid osteoma2FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0004276Exostoses of hand bones2FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0003276Pelvic bone exostoses2FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0000918Scapular exostoses2FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0003960Exostoses of the forearm bones2FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0030433Osteoid osteoma2FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0004276Exostoses of hand bones2FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0003276Pelvic bone exostoses2FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0000918Scapular exostoses2FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0004459Exostosis of the external auditory canal2FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0002762Multiple exostoses2FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0000896Rib exostoses2FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0005701Multiple enchondromatosis2FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0004459Exostosis of the external auditory canal2FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0002762Multiple exostoses2FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0000896Rib exostoses2FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0005701Multiple enchondromatosis2FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0030433Osteoid osteoma2KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0004276Exostoses of hand bones2KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0003276Pelvic bone exostoses2KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0000918Scapular exostoses2KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0003960Exostoses of the forearm bones2KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0030433Osteoid osteoma2KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0004276Exostoses of hand bones2KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0003276Pelvic bone exostoses2KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0000918Scapular exostoses2KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0003960Exostoses of the forearm bones2KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0004459Exostosis of the external auditory canal2KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0002762Multiple exostoses2KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0000896Rib exostoses2KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0005701Multiple enchondromatosis2KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0004459Exostosis of the external auditory canal2KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0002762Multiple exostoses2KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0000896Rib exostoses2KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0005701Multiple enchondromatosis2KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0003276Pelvic bone exostoses2MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0000918Scapular exostoses2MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0003960Exostoses of the forearm bones2MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0030433Osteoid osteoma2MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0004276Exostoses of hand bones2MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0003276Pelvic bone exostoses2MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0000918Scapular exostoses2MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0003960Exostoses of the forearm bones2MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0030433Osteoid osteoma2MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0004276Exostoses of hand bones2MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0004459Exostosis of the external auditory canal2MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0002762Multiple exostoses2MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0000896Rib exostoses2MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0005701Multiple enchondromatosis2MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0004459Exostosis of the external auditory canal2MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0002762Multiple exostoses2MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0000896Rib exostoses2MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0005701Multiple enchondromatosis2MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0000918Scapular exostoses2MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0003960Exostoses of the forearm bones2MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0030433Osteoid osteoma2MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0004276Exostoses of hand bones2MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0003276Pelvic bone exostoses2MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0000918Scapular exostoses2MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0003960Exostoses of the forearm bones2MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0030433Osteoid osteoma2MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0004276Exostoses of hand bones2MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0003276Pelvic bone exostoses2MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0000896Rib exostoses2MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0005701Multiple enchondromatosis2MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0004459Exostosis of the external auditory canal2MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0002762Multiple exostoses2MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0000896Rib exostoses2MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0005701Multiple enchondromatosis2MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0004459Exostosis of the external auditory canal2MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0002762Multiple exostoses2MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0003960Exostoses of the forearm bones2MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0030433Osteoid osteoma2MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0004276Exostoses of hand bones2MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0003276Pelvic bone exostoses2MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0000918Scapular exostoses2MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0003960Exostoses of the forearm bones2MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0030433Osteoid osteoma2MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0004276Exostoses of hand bones2MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0003276Pelvic bone exostoses2MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0000918Scapular exostoses2MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0005701Multiple enchondromatosis2MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0004459Exostosis of the external auditory canal2MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0002762Multiple exostoses2MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0000896Rib exostoses2MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0005701Multiple enchondromatosis2MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0004459Exostosis of the external auditory canal2MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0002762Multiple exostoses2MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0000896Rib exostoses2MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0003960Exostoses of the forearm bones2MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0030433Osteoid osteoma2MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0004276Exostoses of hand bones2MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0003276Pelvic bone exostoses2MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0000918Scapular exostoses2MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0003960Exostoses of the forearm bones2MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0030433Osteoid osteoma2MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0004276Exostoses of hand bones2MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0003276Pelvic bone exostoses2MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0000918Scapular exostoses2MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0004459Exostosis of the external auditory canal2MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0002762Multiple exostoses2MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0000896Rib exostoses2MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0005701Multiple enchondromatosis2MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0004459Exostosis of the external auditory canal2MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0002762Multiple exostoses2MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0000896Rib exostoses2MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0005701Multiple enchondromatosis2MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0030433Osteoid osteoma2PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0004276Exostoses of hand bones2PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0003276Pelvic bone exostoses2PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0000918Scapular exostoses2PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0003960Exostoses of the forearm bones2PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0030433Osteoid osteoma2PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0004276Exostoses of hand bones2PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0003276Pelvic bone exostoses2PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0000918Scapular exostoses2PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0003960Exostoses of the forearm bones2PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0004459Exostosis of the external auditory canal2PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0002762Multiple exostoses2PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0000896Rib exostoses2PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0005701Multiple enchondromatosis2PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0004459Exostosis of the external auditory canal2PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0002762Multiple exostoses2PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0000896Rib exostoses2PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0005701Multiple enchondromatosis2PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0003276Pelvic bone exostoses2PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0000918Scapular exostoses2PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0003960Exostoses of the forearm bones2PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0030433Osteoid osteoma2PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0004276Exostoses of hand bones2PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0003276Pelvic bone exostoses2PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0000918Scapular exostoses2PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0003960Exostoses of the forearm bones2PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0030433Osteoid osteoma2PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0004276Exostoses of hand bones2PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0004459Exostosis of the external auditory canal2PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0002762Multiple exostoses2PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0000896Rib exostoses2PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0005701Multiple enchondromatosis2PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0002762Multiple exostoses2PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0000896Rib exostoses2PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0005701Multiple enchondromatosis2PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0004459Exostosis of the external auditory canal2PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0000896Rib exostoses2PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0005701Multiple enchondromatosis2PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0004459Exostosis of the external auditory canal2PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0002762Multiple exostoses2PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0000918Scapular exostoses2PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0003960Exostoses of the forearm bones2PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0030433Osteoid osteoma2PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0004276Exostoses of hand bones2PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0003276Pelvic bone exostoses2PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0000918Scapular exostoses2PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0003960Exostoses of the forearm bones2PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0030433Osteoid osteoma2PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0004276Exostoses of hand bones2PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0003276Pelvic bone exostoses2PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0000896Rib exostoses2PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0005701Multiple enchondromatosis2PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0004459Exostosis of the external auditory canal2PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0002762Multiple exostoses2PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0005701Multiple enchondromatosis2TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0004459Exostosis of the external auditory canal2TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0002762Multiple exostoses2TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0000896Rib exostoses2TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0003960Exostoses of the forearm bones2TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0030433Osteoid osteoma2TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0004276Exostoses of hand bones2TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0003276Pelvic bone exostoses2TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0000918Scapular exostoses2TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0003960Exostoses of the forearm bones2TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0030433Osteoid osteoma2TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0004276Exostoses of hand bones2TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0003276Pelvic bone exostoses2TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0000918Scapular exostoses2TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0005701Multiple enchondromatosis2TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0004459Exostosis of the external auditory canal2TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0002762Multiple exostoses2TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0000896Rib exostoses2TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0003986Exostoses of the radius3EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0005655Multiple digital exostoses3EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0003986Exostoses of the radius3EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0005655Multiple digital exostoses3EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0003985Exostoses of the ulna3EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0003872Humeral exostoses3EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0005039Multiple long-bone exostoses3EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0003985Exostoses of the ulna3EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0003872Humeral exostoses3EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0005039Multiple long-bone exostoses3EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0005655Multiple digital exostoses3FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0003986Exostoses of the radius3FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0005655Multiple digital exostoses3FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0003986Exostoses of the radius3FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0003985Exostoses of the ulna3FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0003872Humeral exostoses3FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0005039Multiple long-bone exostoses3FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0003985Exostoses of the ulna3FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0003872Humeral exostoses3FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0005039Multiple long-bone exostoses3FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0005655Multiple digital exostoses3KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0003986Exostoses of the radius3KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0005655Multiple digital exostoses3KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0003986Exostoses of the radius3KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0003872Humeral exostoses3KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0005039Multiple long-bone exostoses3KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0003985Exostoses of the ulna3KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0003872Humeral exostoses3KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0005039Multiple long-bone exostoses3KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0003985Exostoses of the ulna3KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0005655Multiple digital exostoses3MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0003986Exostoses of the radius3MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0005655Multiple digital exostoses3MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0003986Exostoses of the radius3MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0005039Multiple long-bone exostoses3MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0003985Exostoses of the ulna3MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0003872Humeral exostoses3MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0005039Multiple long-bone exostoses3MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0003985Exostoses of the ulna3MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0003872Humeral exostoses3MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0005655Multiple digital exostoses3MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0003986Exostoses of the radius3MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0005655Multiple digital exostoses3MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0003986Exostoses of the radius3MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0005039Multiple long-bone exostoses3MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0003985Exostoses of the ulna3MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0003872Humeral exostoses3MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0005039Multiple long-bone exostoses3MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0003985Exostoses of the ulna3MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0003872Humeral exostoses3MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0003986Exostoses of the radius3MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0005655Multiple digital exostoses3MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0003986Exostoses of the radius3MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0005655Multiple digital exostoses3MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0003985Exostoses of the ulna3MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0003872Humeral exostoses3MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0005039Multiple long-bone exostoses3MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0003985Exostoses of the ulna3MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0003872Humeral exostoses3MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0005039Multiple long-bone exostoses3MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0005655Multiple digital exostoses3MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0003986Exostoses of the radius3MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0005655Multiple digital exostoses3MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0003986Exostoses of the radius3MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0003985Exostoses of the ulna3MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0003872Humeral exostoses3MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0005039Multiple long-bone exostoses3MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0003872Humeral exostoses3MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0005039Multiple long-bone exostoses3MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0003985Exostoses of the ulna3MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0005655Multiple digital exostoses3PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0003986Exostoses of the radius3PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0005655Multiple digital exostoses3PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0003986Exostoses of the radius3PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0003872Humeral exostoses3PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0005039Multiple long-bone exostoses3PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0003985Exostoses of the ulna3PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0005039Multiple long-bone exostoses3PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0003985Exostoses of the ulna3PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0003872Humeral exostoses3PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0005655Multiple digital exostoses3PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0003986Exostoses of the radius3PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0005655Multiple digital exostoses3PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0003986Exostoses of the radius3PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0005039Multiple long-bone exostoses3PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0003985Exostoses of the ulna3PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0003872Humeral exostoses3PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0005039Multiple long-bone exostoses3PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0003985Exostoses of the ulna3PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0003872Humeral exostoses3PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0005039Multiple long-bone exostoses3PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0003872Humeral exostoses3PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0003986Exostoses of the radius3PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0005655Multiple digital exostoses3PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0003986Exostoses of the radius3PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0005655Multiple digital exostoses3PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0005039Multiple long-bone exostoses3PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0003985Exostoses of the ulna3PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0003872Humeral exostoses3PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0003985Exostoses of the ulna3PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0003985Exostoses of the ulna3TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0003872Humeral exostoses3TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0005039Multiple long-bone exostoses3TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0003986Exostoses of the radius3TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0005655Multiple digital exostoses3TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0003986Exostoses of the radius3TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0005655Multiple digital exostoses3TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0003985Exostoses of the ulna3TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0003872Humeral exostoses3TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0005039Multiple long-bone exostoses3TGFBR2 CL E G H7048144ORPHA075011773190182
HP:0010622HP:0004017Exostoses of the radial metaphysis4EPCAM CL E G H4072144ORPHA037411529185535
HP:0010622HP:0004017Exostoses of the radial metaphysis4EPCAM CL E G H4072144ORPHA036011529185535
HP:0010622HP:0004017Exostoses of the radial metaphysis4FAN1 CL E G H22909144ORPHA036129170613534
HP:0010622HP:0004017Exostoses of the radial metaphysis4FAN1 CL E G H22909144ORPHA035129170613534
HP:0010622HP:0004017Exostoses of the radial metaphysis4KRAS CL E G H3845144ORPHA03416407190070
HP:0010622HP:0004017Exostoses of the radial metaphysis4KRAS CL E G H3845144ORPHA03316407190070
HP:0010622HP:0004017Exostoses of the radial metaphysis4MLH1 CL E G H4292144ORPHA037637127120436
HP:0010622HP:0004017Exostoses of the radial metaphysis4MLH1 CL E G H4292144ORPHA035407127120436
HP:0010622HP:0004017Exostoses of the radial metaphysis4MLH3 CL E G H27030144ORPHA07637128604395
HP:0010622HP:0004017Exostoses of the radial metaphysis4MLH3 CL E G H27030144ORPHA06347128604395
HP:0010622HP:0004017Exostoses of the radial metaphysis4MSH2 CL E G H4436144ORPHA049647325609309
HP:0010622HP:0004017Exostoses of the radial metaphysis4MSH2 CL E G H4436144ORPHA046077325609309
HP:0010622HP:0004017Exostoses of the radial metaphysis4MSH6 CL E G H2956144ORPHA062197329600678
HP:0010622HP:0004017Exostoses of the radial metaphysis4MSH6 CL E G H2956144ORPHA057177329600678
HP:0010622HP:0004017Exostoses of the radial metaphysis4PIK3CA CL E G H5290144ORPHA06138975171834
HP:0010622HP:0004017Exostoses of the radial metaphysis4PIK3CA CL E G H5290144ORPHA05448975171834
HP:0010622HP:0004017Exostoses of the radial metaphysis4PMS1 CL E G H5378144ORPHA0929121600258
HP:0010622HP:0004017Exostoses of the radial metaphysis4PMS1 CL E G H5378144ORPHA0859121600258
HP:0010622HP:0004017Exostoses of the radial metaphysis4PMS2 CL E G H5395144ORPHA034219122600259
HP:0010622HP:0004017Exostoses of the radial metaphysis4PMS2 CL E G H5395144ORPHA031549122600259
HP:0010622HP:0004017Exostoses of the radial metaphysis4TGFBR2 CL E G H7048144ORPHA069411773190182
HP:0010622HP:0004017Exostoses of the radial metaphysis4TGFBR2 CL E G H7048144ORPHA075011773190182


Genes (63) :ACAN ADAR AKT1 ALX4 APC ATP7A B3GALT6 CDKN2A CHEK2 CHRNG COL11A2 COL2A1 EPCAM EXT1 EXT2 FAN1 FGFR1 FGFR3 GLI3 GNAS IDH1 IDH2 IFIH1 KRAS LMNA LMX1B MDM2 MLH1 MLH3 MSH2 MSH6 MTAP NR4A3 PHF21A PIK3CA PMS1 PMS2 POLR1C POLR1D PORCN PRKAR1A PTEN PTH1R PTPN11 RAD21 RB1 RECQL4 RNASEH2A RNASEH2B RNASEH2C RPS19 SAMHD1 SHOX SQSTM1 TAF15 TCOF1 TGFBR2 TP53 TREX1 TRPS1 TSC1 TSC2 WRN

Diseases (52) :144 2396 165800 51 744 52022 79665 261584 247806 175100 198 565 93359 524 259500 166100 85198 321 215300 133700 133701 610474 672 166350 163634 296 79474 2614 112250 612237 2092 1359 2969 2499 614701 180200 1225 221016 268400 105650 240 167250 151623 191100 613254 277700 304150 265000 861 156250 127300 502
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.