ONTOLOGY REPORT - ANNOTATIONS


Term:Spinal Curvatures
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Accession:DOID:9002608 term browser browse the term
Definition:Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS).
Synonyms:exact_synonym: Spinal Curvature
 primary_id: MESH:D013121;   RDO:0003896
For additional species annotation, visit the Alliance of Genome Resources.


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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
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
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:8554872
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
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
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
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
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 Nf1x nuclear factor 1 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 Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 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 Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 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 Tph1 tryptophan hydroxylase 1 JBrowse link 1 102,669,868 102,699,442 RGD:5686347
RGD:5686349
RGD:5686348
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        bone disease 2125
          spinal disease 135
            Spinal Curvatures 51
              Camptocormia 3
              Kyphosis + 15
              Lordosis + 2
              scoliosis + 38
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      Skin and Connective Tissue Diseases 3927
        connective tissue disease 2585
          bone disease 2125
            spinal disease 135
              Spinal Curvatures 51
                Camptocormia 3
                Kyphosis + 15
                Lordosis + 2
                scoliosis + 38
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.