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ONTOLOGY REPORT - ANNOTATIONS


Term:bone structure disease
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Accession:DOID:0080010 term browser browse the term
Definition:A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


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bone structure disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Postn periostin JBrowse link 2 143,656,820 143,688,087 RGD:13592920
G Qrfpr pyroglutamylated RFamide peptide receptor JBrowse link 2 122,891,321 122,949,241 RGD:13592920
Camptocormia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
degenerative disc disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:10043178
RGD:11570539
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 JBrowse link 13 89,622,996 89,632,485 RGD:10043115
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 JBrowse link 11 25,411,174 25,456,639 RGD:8661231
RGD:10043115
G Aspn asporin JBrowse link 17 14,655,958 14,681,355 RGD:9684961
RGD:9684970
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:11561942
G Col10a1 collagen type X alpha 1 chain JBrowse link 20 41,180,295 41,190,664 RGD:8661231
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:5688293
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8661231
RGD:11570539
RGD:10043178
G Crk CRK proto-oncogene, adaptor protein JBrowse link 10 63,829,731 63,855,999 RGD:11568070
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:13207419
G Gsk3b glycogen synthase kinase 3 beta JBrowse link 11 65,060,884 65,208,842 RGD:13792726
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha JBrowse link 3 150,801,289 150,802,935 RGD:11561942
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207382
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:8661231
RGD:10043178
RGD:2325859
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:2325859
RGD:8661231
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:5144150
G Ngfr nerve growth factor receptor JBrowse link 10 83,389,828 83,408,061 RGD:5144150
G Pappa1 pappalysin 1 JBrowse link 5 80,919,932 81,153,904 RGD:10412724
G Postn periostin JBrowse link 2 143,656,820 143,688,087 RGD:10040995
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:10043178
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp14 FKBP prolyl isomerase 14 JBrowse link 4 84,753,628 84,768,314 RGD:7240710
RGD:8554872
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:11554173
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:7240710
RGD:8554872
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:8554872
RGD:7240710
hypochondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
RGD:11568026
idiopathic scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrg6 adhesion G protein-coupled receptor G6 JBrowse link 1 8,593,342 8,751,540 RGD:11554173
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 JBrowse link 2 211,183,410 211,207,458 RGD:8554872
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
RGD:7240710
G Mapk7 mitogen-activated protein kinase 7 JBrowse link 10 47,768,592 47,775,130 RGD:8554872
Intervertebral Disc Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aspn asporin JBrowse link 17 14,655,958 14,681,355 RGD:7240710
G Ccr2 C-C motif chemokine receptor 2 RGD:8661788
G Cilp cartilage intermediate layer protein JBrowse link 8 70,760,922 70,775,891 RGD:7240710
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:7240710
RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:5688295
RGD:5688297
G Col9a3 collagen type IX alpha 3 chain JBrowse link 3 176,102,287 176,124,839 RGD:7240710
RGD:8554872
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:9068928
G Mir155 microRNA 155 JBrowse link 11 24,176,603 24,176,667 RGD:24922221
G Thbs2 thrombospondin 2 JBrowse link 1 56,653,929 56,683,571 RGD:7240710
RGD:8554872
Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:7240710
RGD:8554872
Kyphoscoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa11 homeobox A11 JBrowse link 4 82,296,888 82,301,419 RGD:11354896
G Hoxc10 homeo box C10 JBrowse link 7 144,577,578 144,582,802 RGD:11354896
G Hoxd10 homeo box D10 JBrowse link 3 61,614,133 61,617,342 RGD:11354896
G Hoxd11 homeobox D11 JBrowse link 3 61,604,256 61,606,874 RGD:11354896
Kyphosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp1 elongator complex protein 1 JBrowse link 5 73,503,406 73,552,798 RGD:5129159
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:11554173
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:11554173
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:11554173
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:11554173
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:11554173
Lordosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:1300269
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rin2 Ras and Rab interactor 2 JBrowse link 3 139,871,330 140,087,679 RGD:7240710
RGD:8554872
parastremmatic dwarfism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872
Progressive Congenital Myopathy with Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax7 paired box 7 JBrowse link 5 158,211,001 158,313,510 RGD:8554872
RGD:7240710
rigid spine muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta1 actin, alpha 1, skeletal muscle JBrowse link 19 56,674,072 56,677,084 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Selenon selenoprotein N JBrowse link 5 152,748,497 152,765,489 RGD:1599352
RGD:8554872
RGD:7240710
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
Scheuermann's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clec3b C-type lectin domain family 3, member B JBrowse link 8 132,241,016 132,248,066 RGD:13592920
G Nfix nuclear factor I X JBrowse link 19 25,818,640 25,914,777 RGD:13592920
scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
G Dll3 delta like canonical Notch ligand 3 JBrowse link 1 85,485,875 85,493,683 RGD:11554173
G Elp1 elongator complex protein 1 JBrowse link 5 73,503,406 73,552,798 RGD:5129159
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:12910484
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:12910484
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:13592920
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:8554872
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207288
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:11554173
G Poc5 POC5 centriolar protein JBrowse link 2 27,000,303 27,030,646 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:8554872
G Tbx6 T-box transcription factor 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Tph1 tryptophan hydroxylase 1 JBrowse link 1 102,669,868 102,699,442 RGD:5686347
RGD:5686349
RGD:5686348
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext2 exostosin glycosyltransferase 2 JBrowse link 3 82,602,784 82,734,557 RGD:8554872
RGD:7240710
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc10a7 solute carrier family 10, member 7 JBrowse link 19 32,857,984 33,081,359 RGD:7240710
RGD:8554872
Spinal Curvatures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:11554173
spondylocarpotarsal synostosis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
RGD:12791028
RGD:11554173
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
spondylolysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:13208868
spondylosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:10403053
Tsukahara Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp407 zinc finger protein 407 JBrowse link 18 81,057,507 81,453,682 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      musculoskeletal system disease 5541
        bone disease 3473
          spinal disease 1439
            bone structure disease 82
              Spinal Curvatures + 53
              bone deterioration disease + 29
              scoliosis + 40
              spondylolisthesis + 0
              spondylolysis + 1
              spondylosis + 2
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      musculoskeletal system disease 5541
        connective tissue disease 4009
          bone disease 3473
            spinal disease 1439
              bone structure disease 82
                Spinal Curvatures + 53
                bone deterioration disease + 29
                scoliosis + 40
                spondylolisthesis + 0
                spondylolysis + 1
                spondylosis + 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.