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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:Long-bone fracture
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Accession:HP:0025736 term browser browse the term
Definition:A partial or complete breakage of a lone bone (e.g., the femur, tibia, fibula, humerus, radius, and ulna).


show annotations for term's descendants           Sort by:
Femur fracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 IAGP HPO MIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP HPO MIM:619322 NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,130 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO MIM:259700 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO MIM:612301 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO MIM:605822 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		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 HPO MIM:616897 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 HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO MIM:618188 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
Recurrent long bone fractures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN7 chloride voltage-gated channel 7 IAGP HPO MIM:166600 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 HPO MIM:112250 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 HPO MIM:167250 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 HPO ORPHA:496641 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 HPO MIM:602080 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 74032
    Phenotypic abnormality 73727
      Abnormality of the musculoskeletal system 9766
        Abnormality of the skeletal system 8650
          Abnormal skeletal morphology 8066
            Bone fracture 190
              Long-bone fracture 62
                Femur fracture + 53
                Fractured clavicle bone + 0
                Fractured epiphysis + 0
                Fractured fibula 0
                Fractured fused metatarsal bones 2-4 0
                Fractured head of femur 0
                Fractured humerus + 0
                Fractured lateral malleolus of fibula 0
                Fractured metacarpal bone of digit 1 0
                Fractured metaphysis of femur 0
                Fractured metatarsal bone of digit 1 0
                Fractured metatarsal bone of digit 4 0
                Fractured metatarsal bone of digit 5 0
                Fractured phalanx + 0
                Fractured radius 1
                Fractured rib 2
                Fractured sternal end of clavicle 0
                Fractured tibia + 0
                Fractured ulna 0
                Recurrent long bone fractures 7
Path 2
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of the musculoskeletal system 9766
        Abnormality of the skeletal system 8650
          Abnormal skeletal morphology 8066
            Abnormal appendicular skeleton morphology 2150
              Abnormal long bone morphology 852
                Long-bone fracture 62
                  Femur fracture + 53
                  Fractured clavicle bone + 0
                  Fractured epiphysis + 0
                  Fractured fibula 0
                  Fractured fused metatarsal bones 2-4 0
                  Fractured head of femur 0
                  Fractured humerus + 0
                  Fractured lateral malleolus of fibula 0
                  Fractured metacarpal bone of digit 1 0
                  Fractured metaphysis of femur 0
                  Fractured metatarsal bone of digit 1 0
                  Fractured metatarsal bone of digit 4 0
                  Fractured metatarsal bone of digit 5 0
                  Fractured phalanx + 0
                  Fractured radius 1
                  Fractured rib 2
                  Fractured sternal end of clavicle 0
                  Fractured tibia + 0
                  Fractured ulna 0
                  Recurrent long bone fractures 7
paths to the root