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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:Exostoses
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Accession:HP:0100777 term browser browse the term
Definition:An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
Synonyms:exact_synonym: Formation of new noncancerous bone on top of existing bone
 xref: SNOMEDCT_US:416189003;   SNOMEDCT_US:80400009;   UMLS:C1442903


show annotations for term's descendants           Sort by:
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 ClinVar Annotator: match by term: Exostoses HPO
ClinVar		 PMID:10679937 PMID:11391482 PMID:16199547 PMID:18165274 PMID:19810120 More... 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 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
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 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
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
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 34423
    Phenotypic abnormality 34374
      Neoplasm 6202
        Neoplasm by anatomical site 6146
          Neoplasm of the skeletal system 139
            Exostoses 42
              Exostoses of hand bones 0
              Exostoses of the forearm bones + 0
              Exostosis of the external auditory canal 3
              Multiple exostoses + 29
              Pelvic bone exostoses 3
              Rib exostoses 4
              Scapular exostoses 2
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the musculoskeletal system 5574
        Abnormality of the skeletal system 4650
          Abnormal skeletal morphology 4495
            Neoplasm of the skeletal system 139
              Exostoses 42
                Exostoses of hand bones 0
                Exostoses of the forearm bones + 0
                Exostosis of the external auditory canal 3
                Multiple exostoses + 29
                Pelvic bone exostoses 3
                Rib exostoses 4
                Scapular exostoses 2
paths to the root