Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormality of skeletal morphology (HP:0011842)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
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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
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 H22602396ORPHA12653688136350
HP:0010622HP:0010622Neoplasm of the skeletal system0KRAS CL E G H38452396ORPHA1456407190070
HP:0010622HP:0010622Neoplasm of the skeletal system1FGFR1 CL E G H22602396ORPHA12653688136350
HP:0010622HP:0010622Neoplasm of the skeletal system1KRAS CL E G H38452396ORPHA1456407190070
HP:0010622HP:0010622Neoplasm of the skeletal system2FGFR1 CL E G H22602396ORPHA12653688136350
HP:0010622HP:0010622Neoplasm of the skeletal system2KRAS CL E G H38452396ORPHA1456407190070
HP:0010622HP:0010622Neoplasm of the skeletal system3FGFR1 CL E G H22602396ORPHA12653688136350
HP:0010622HP:0010622Neoplasm of the skeletal system3KRAS CL E G H38452396ORPHA1456407190070
HP:0010622HP:0010622Neoplasm of the skeletal system4FGFR1 CL E G H22602396ORPHA12653688136350
HP:0010622HP:0010622Neoplasm of the skeletal system4KRAS CL E G H38452396ORPHA1456407190070
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010622HP:0010622Neoplasm of the skeletal system0EPCAM CL E G H4072144ORPHA08111529185535
HP:0010622HP:0010622Neoplasm of the skeletal system0FAN1 CL E G H22909144ORPHA02129170613534
HP:0010622HP:0010622Neoplasm of the skeletal system0KRAS CL E G H3845144ORPHA0456407190070
HP:0010622HP:0010622Neoplasm of the skeletal system0MLH1 CL E G H4292144ORPHA012037127120436
HP:0010622HP:0010622Neoplasm of the skeletal system0MLH3 CL E G H27030144ORPHA0327128604395
HP:0010622HP:0010622Neoplasm of the skeletal system0MSH2 CL E G H4436144ORPHA012647325609309
HP:0010622HP:0010622Neoplasm of the skeletal system0MSH6 CL E G H2956144ORPHA06027329600678
HP:0010622HP:0010622Neoplasm of the skeletal system0PIK3CA CL E G H5290144ORPHA0578975171834
HP:0010622HP:0010622Neoplasm of the skeletal system0PMS1 CL E G H5378144ORPHA0369121600258
HP:0010622HP:0010622Neoplasm of the skeletal system0PMS2 CL E G H5395144ORPHA03639122600259
HP:0010622HP:0010622Neoplasm of the skeletal system0TGFBR2 CL E G H7048144ORPHA014811773190182
HP:0010622HP:0010622Neoplasm of the skeletal system1EPCAM CL E G H4072144ORPHA08111529185535
HP:0010622HP:0010622Neoplasm of the skeletal system1FAN1 CL E G H22909144ORPHA02129170613534
HP:0010622HP:0010622Neoplasm of the skeletal system1KRAS CL E G H3845144ORPHA0456407190070
HP:0010622HP:0010622Neoplasm of the skeletal system1MLH1 CL E G H4292144ORPHA012037127120436
HP:0010622HP:0010622Neoplasm of the skeletal system1MLH3 CL E G H27030144ORPHA0327128604395
HP:0010622HP:0010622Neoplasm of the skeletal system1MSH2 CL E G H4436144ORPHA012647325609309
HP:0010622HP:0010622Neoplasm of the skeletal system1MSH6 CL E G H2956144ORPHA06027329600678
HP:0010622HP:0010622Neoplasm of the skeletal system1PIK3CA CL E G H5290144ORPHA0578975171834
HP:0010622HP:0010622Neoplasm of the skeletal system1PMS1 CL E G H5378144ORPHA0369121600258
HP:0010622HP:0010622Neoplasm of the skeletal system1PMS2 CL E G H5395144ORPHA03639122600259
HP:0010622HP:0010622Neoplasm of the skeletal system1TGFBR2 CL E G H7048144ORPHA014811773190182
HP:0010622HP:0010622Neoplasm of the skeletal system2EPCAM CL E G H4072144ORPHA08111529185535
HP:0010622HP:0010622Neoplasm of the skeletal system2FAN1 CL E G H22909144ORPHA02129170613534
HP:0010622HP:0010622Neoplasm of the skeletal system2KRAS CL E G H3845144ORPHA0456407190070
HP:0010622HP:0010622Neoplasm of the skeletal system2MLH1 CL E G H4292144ORPHA012037127120436
HP:0010622HP:0010622Neoplasm of the skeletal system2MLH3 CL E G H27030144ORPHA0327128604395
HP:0010622HP:0010622Neoplasm of the skeletal system2MSH2 CL E G H4436144ORPHA012647325609309
HP:0010622HP:0010622Neoplasm of the skeletal system2MSH6 CL E G H2956144ORPHA06027329600678
HP:0010622HP:0010622Neoplasm of the skeletal system2PIK3CA CL E G H5290144ORPHA0578975171834
HP:0010622HP:0010622Neoplasm of the skeletal system2PMS1 CL E G H5378144ORPHA0369121600258
HP:0010622HP:0010622Neoplasm of the skeletal system2PMS2 CL E G H5395144ORPHA03639122600259
HP:0010622HP:0010622Neoplasm of the skeletal system2TGFBR2 CL E G H7048144ORPHA014811773190182
HP:0010622HP:0010622Neoplasm of the skeletal system3EPCAM CL E G H4072144ORPHA08111529185535
HP:0010622HP:0010622Neoplasm of the skeletal system3FAN1 CL E G H22909144ORPHA02129170613534
HP:0010622HP:0010622Neoplasm of the skeletal system3KRAS CL E G H3845144ORPHA0456407190070
HP:0010622HP:0010622Neoplasm of the skeletal system3MLH1 CL E G H4292144ORPHA012037127120436
HP:0010622HP:0010622Neoplasm of the skeletal system3MLH3 CL E G H27030144ORPHA0327128604395
HP:0010622HP:0010622Neoplasm of the skeletal system3MSH2 CL E G H4436144ORPHA012647325609309
HP:0010622HP:0010622Neoplasm of the skeletal system3MSH6 CL E G H2956144ORPHA06027329600678
HP:0010622HP:0010622Neoplasm of the skeletal system3PIK3CA CL E G H5290144ORPHA0578975171834
HP:0010622HP:0010622Neoplasm of the skeletal system3PMS1 CL E G H5378144ORPHA0369121600258
HP:0010622HP:0010622Neoplasm of the skeletal system3PMS2 CL E G H5395144ORPHA03639122600259
HP:0010622HP:0010622Neoplasm of the skeletal system3TGFBR2 CL E G H7048144ORPHA014811773190182
HP:0010622HP:0010622Neoplasm of the skeletal system4EPCAM CL E G H4072144ORPHA08111529185535
HP:0010622HP:0010622Neoplasm of the skeletal system4FAN1 CL E G H22909144ORPHA02129170613534
HP:0010622HP:0010622Neoplasm of the skeletal system4KRAS CL E G H3845144ORPHA0456407190070
HP:0010622HP:0010622Neoplasm of the skeletal system4MLH1 CL E G H4292144ORPHA012037127120436
HP:0010622HP:0010622Neoplasm of the skeletal system4MLH3 CL E G H27030144ORPHA0327128604395
HP:0010622HP:0010622Neoplasm of the skeletal system4MSH2 CL E G H4436144ORPHA012647325609309
HP:0010622HP:0010622Neoplasm of the skeletal system4MSH6 CL E G H2956144ORPHA06027329600678
HP:0010622HP:0010622Neoplasm of the skeletal system4PIK3CA CL E G H5290144ORPHA0578975171834
HP:0010622HP:0010622Neoplasm of the skeletal system4PMS1 CL E G H5378144ORPHA0369121600258
HP:0010622HP:0010622Neoplasm of the skeletal system4PMS2 CL E G H5395144ORPHA03639122600259
HP:0010622HP:0010622Neoplasm of the skeletal system4TGFBR2 CL E G H7048144ORPHA014811773190182


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 261584 247806 79665 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 221016 1225 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 June 2019 release.