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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Neoplasm of the skeletal system
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Accession:HP:0010622 term browser browse the term
Definition:A tumor (abnormal growth of tissue) of the skeleton.
Synonyms:exact_synonym: Skeletal tumor;   Skeletal tumour
 narrow_synonym: Neoplasia of the skeletal system
 related_synonym: Bone neoplasm
 xref: NCI:C3262;   SNOMEDCT_US:442868003;   UMLS:C2732838;   UMLS:C4020771


show annotations for term's descendants           Sort by:
Neoplasm of the skeletal system term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP HPO ORPHA:79501 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:440437 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:440437 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:440437 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:440437 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain IAGP HPO ORPHA:79501 NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2396 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:144 ORPHA:2396 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MSH2 mutS homolog 2 IAGP HPO ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP HPO ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:440437 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:144 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:440437 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:440437 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
Chondrosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXT1 exostosin glycosyltransferase 1 IAGP ClinVar Annotator: match by term: Chondrosarcoma ClinVar
HPO		 PMID:7550340 PMID:8981950 PMID:9521425 PMID:10679937 PMID:11170095 More... MIM:133700 MIM:215300 ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO MIM:133701 ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:163634 ORPHA:296 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:163634 ORPHA:296 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 IAGP HPO MIM:612237 NCBI chr 9:99,821,885...99,866,891
Ensembl chr 9:99,821,855...99,866,891 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:296 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G TAF15 TATA-box binding protein associated factor 15 IAGP HPO MIM:612237 NCBI chr17:35,809,484...35,847,242
Ensembl chr17:35,809,482...35,864,615 		JBrowse link
Chordoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Chordoma ClinVar PMID:186727 PMID:10923033 PMID:11304778 PMID:11873550 PMID:11920621 More... NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator IAGP ClinVar Annotator: match by term: Chordoma ClinVar NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Chordoma ClinVar PMID:25085752 PMID:25741868 PMID:26283626 PMID:26315354 PMID:27106063 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO MIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Enchondroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ACVR1 activin A receptor type 1 IAGP HPO ORPHA:337 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X RGD PMID:20577567 RGD:11069623 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
Exostoses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan IAGP HPO MIM:165800 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO ORPHA:52022 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO MIM:304150 ORPHA:198 ORPHA:565 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO ORPHA:166100 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:166100 ORPHA:85198 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:466926 ORPHA:52022 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:616482 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:163634 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:163634 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G PHF21A PHD finger protein 21A IAGP HPO ORPHA:52022 NCBI chr11:45,929,319...46,121,454
Ensembl chr11:45,929,319...46,121,454 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:2969 ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X HPO
RGD		 PMID:20577567 ORPHA:2499, RGD:11069623 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO MIM:614701 ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G SHOX SHOX homeobox IAGP HPO ORPHA:240 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO ORPHA:502 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
Exostosis of the external auditory canal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO MIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G IPO8 importin 8 IAGP HPO MIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
Giant cell tumor of bone term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
Multiple digital exostoses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:156250 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
Multiple enchondromatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:85198 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HIF1A-AS3 HIF1A antisense RNA 3 IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr14:61,715,558...61,751,097
Ensembl chr14:61,678,402...61,751,163 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar
HPO		 PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... ORPHA:163634 ORPHA:296 ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar
HPO		 PMID:18414213 PMID:25741868 PMID:28492532 ORPHA:163634 ORPHA:296 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G KDM4C lysine demethylase 4C IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar PMID:25741868 NCBI chr 9:6,720,863...7,175,648
Ensembl chr 9:6,720,863...7,175,648 		JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar PMID:7987306 PMID:8956040 PMID:9681856 PMID:10088816 PMID:17024664 More... NCBI chr 3:10,142,339...10,160,352 JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 IAGP HPO MIM:620189 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243 		JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:296 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:156250 ORPHA:2499 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Multiple enchondromatosis ClinVar PMID:7563486 PMID:7987306 PMID:8634692 PMID:8707293 PMID:8772572 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Multiple exostoses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARD alanine and arginine rich domain containing protein IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:28492532 NCBI chr 8:116,938,207...116,944,487
Ensembl chr 8:116,938,207...116,944,487 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO ORPHA:60015 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G CCN3 cellular communication network factor 3 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:119,416,446...119,424,434
Ensembl chr 8:119,416,446...119,424,434 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573 		JBrowse link
G COLEC10 collectin subfamily member 10 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G DEPTOR DEP domain containing MTOR interacting protein IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:119,873,722...120,050,918
Ensembl chr 8:119,873,717...120,050,918 		JBrowse link
G DSCC1 DNA replication and sister chromatid cohesion 1 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:119,833,976...119,855,894
Ensembl chr 8:119,833,976...119,855,894 		JBrowse link
G EIF3H eukaryotic translation initiation factor 3 subunit H IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:28492532 NCBI chr 8:116,642,130...116,766,374
Ensembl chr 8:116,642,130...116,766,925 		JBrowse link
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:119,557,086...119,673,390
Ensembl chr 8:119,557,086...119,673,453 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar
HPO		 PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... MIM:133700 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar
HPO		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 MIM:133701 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G LINC00536 long intergenic non-protein coding RNA 536 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:28492532 NCBI chr 8:115,950,511...116,325,059
Ensembl chr 8:115,950,511...116,451,731 		JBrowse link
G LOC124188206 Sharpr-MPRA regulatory region 14285 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 NCBI chr 8:117,831,570...117,831,864 JBrowse link
G LOC130001002 ATAC-STARR-seq lymphoblastoid silent region 19478 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:25741868 NCBI chr 8:118,111,679...118,111,768 JBrowse link
G MAL2 mal, T cell differentiation protein 2 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:119,208,363...119,245,673
Ensembl chr 8:119,165,034...119,245,673 		JBrowse link
G MED30 mediator complex subunit 30 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:28492532 NCBI chr 8:117,520,713...117,540,262
Ensembl chr 8:117,520,713...117,540,262 		JBrowse link
G MRPL13 mitochondrial ribosomal protein L13 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:120,395,437...120,445,150
Ensembl chr 8:120,380,761...120,445,402 		JBrowse link
G MSX2 msh homeobox 2 IAGP HPO ORPHA:60015 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		JBrowse link
G MTBP MDM2 binding protein IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:120,445,419...120,523,636
Ensembl chr 8:120,445,400...120,542,133 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:156250 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:28492532 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G SAMD12 sterile alpha motif domain containing 12 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:118,131,825...118,621,963
Ensembl chr 8:118,189,455...118,622,112 		JBrowse link
G SHOX SHOX homeobox IAGP HPO MIM:127300 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SLC30A8 solute carrier family 30 member 8 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:28492532 NCBI chr 8:116,950,217...117,176,714
Ensembl chr 8:116,950,273...117,176,714 		JBrowse link
G SNTB1 syntrophin beta 1 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:120,535,756...120,812,046
Ensembl chr 8:120,535,745...120,813,273 		JBrowse link
G TAF2 TATA-box binding protein associated factor 2 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:28492532 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G UTP23 UTP23 small subunit processome component IAGP ClinVar Annotator: match by term: Multiple exostoses ClinVar PMID:28492532 NCBI chr 8:116,766,524...116,774,684
Ensembl chr 8:116,766,505...116,849,463 		JBrowse link
Multiple long-bone exostoses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO ORPHA:502 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
Osteochondroma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP HPO ORPHA:337 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:609162 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:610474 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G NFATC2 nuclear factor of activated T cells 2 IAGP HPO MIM:620232 NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831 		JBrowse link
G SOX6 SRY-box transcription factor 6 IAGP HPO MIM:618971 NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591 		JBrowse link
Osteoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:175100 ORPHA:247806 ORPHA:261584 ORPHA:79665 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
Osteosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO MIM:259500 ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO MIM:620072 ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP HPO MIM:112250 NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO MIM:180200 MIM:259500 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:268400 ORPHA:1225 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032 		JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587 		JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO MIM:105650 ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO MIM:167250 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G TP53 tumor protein p53 IAGP HPO MIM:151623 MIM:259500 MIM:260500 ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO MIM:277700 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
Pelvic bone exostoses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha IAGP HPO MIM:304150 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO MIM:133700 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO MIM:133701 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
Rib exostoses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G CHD6 chromodomain helicase DNA binding protein 6 IAGP HPO ORPHA:2108 NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO MIM:133700 ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO MIM:133701 ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
Scapular exostoses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXT1 exostosin glycosyltransferase 1 IAGP HPO MIM:133700 ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO MIM:133701 ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Neoplasm 15251
        Neoplasm by anatomical site 15044
          Neoplasm of the skeletal system 148
            Adamantinoma 0
            Chondroblastoma 0
            Chondrosarcoma 7
            Chordoma 6
            Enchondroma + 28
            Exostoses + 42
            Giant cell tumor of bone 1
            Osteoblastoma 0
            Osteochondroma 8
            Osteochondromyxoma 0
            Osteoma + 1
            Osteosarcoma 52
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the musculoskeletal system 9725
        Abnormality of the skeletal system 8608
          Abnormal skeletal morphology 8024
            Neoplasm of the skeletal system 148
              Adamantinoma 0
              Chondroblastoma 0
              Chondrosarcoma 7
              Chordoma 6
              Enchondroma + 28
              Exostoses + 42
              Giant cell tumor of bone 1
              Osteoblastoma 0
              Osteochondroma 8
              Osteochondromyxoma 0
              Osteoma + 1
              Osteosarcoma 52
paths to the root