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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:Bone fracture
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Accession:HP:0020110 term browser browse the term
Definition:A partial or complete breakage of the continuity of a bone.



show annotations for term's descendants           Sort by:
Bone fracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 IAGP ORPHA:221008 HPO NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:321 HPO 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 ORPHA:321 HPO NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G FGF23 fibroblast growth factor 23 IAGP ORPHA:89937 HPO NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP ORPHA:79239 HPO NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035
JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:562 HPO NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP ORPHA:79330 HPO NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410
JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP ORPHA:2088 HPO NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP ORPHA:1145 HPO NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128
JBrowse link
Fractured radius term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAPT1 transmembrane anterior posterior transformation 1 IAGP OMIM:616897 HPO NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410
JBrowse link
Fractured rib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor IAGP OMIM:215140 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
Fractures of the long bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN7 chloride voltage-gated channel 7 IAGP OMIM:166600 HPO NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Increased long bone fracture rate ClinVar PMID:8364588 PMID:25741868 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G ESR2 estrogen receptor 2 susceptibility IAGP DNA:repeat:3' utr: g.dupCA RGD PMID:22948905 RGD:7364765 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP OMIM:112250 HPO NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G SQSTM1 sequestosome 1 IAGP OMIM:167250 HPO NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078
JBrowse link
G TBCD tubulin folding cofactor D IAGP ORPHA:496641 HPO NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP OMIM:602080 HPO NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 15292
    Phenotypic abnormality 15290
      Abnormality of the musculoskeletal system 4269
        Abnormality of the skeletal system 3435
          Abnormal skeletal morphology 3318
            Bone fracture 18
              Fractured acetabular part of hip bone 0
              Fractured ankle 0
              Fractured coccyx 0
              Fractured facial bone + 0
              Fractured foot bone 0
              Fractured forearm bones + 1
              Fractured fused sacrum 0
              Fractured hand bones + 0
              Fractured hindlimb bone + 0
              Fractured ilium 0
              Fractured scapula 0
              Fractured shoulder 0
              Fractured shoulder bone + 0
              Fractured vertebra + 0
              Fractures of the long bones + 9
paths to the root