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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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)
Synonyms:exact_synonym: ABNORMAL BONE STRUCTURE
 narrow_synonym: Abnormality of bone mineral density
 xref: HP:0003330;   HP:0004348;   MP:0003795

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bone structure disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Postn periostin ISO MouseDO NCBI chrNW_004624920:542,479...575,760
Ensembl chrNW_004624920:540,750...575,855 		JBrowse link
G Qrfpr pyroglutamylated RFamide peptide receptor ISO MouseDO NCBI chrNW_004624777:1,420,050...1,484,518
Ensembl chrNW_004624777:1,419,637...1,484,608 		JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613031 NCBI chrNW_004624860:4,968,624...4,970,362 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 More... NCBI chrNW_004624768:16,493,123...16,509,747
Ensembl chrNW_004624768:16,491,555...16,509,900 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624763:19,362,793...19,391,401
Ensembl chrNW_004624763:19,362,663...19,391,443 		JBrowse link
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: PRDM13-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34730112 NCBI chrNW_004624810:5,421,231...5,428,863
Ensembl chrNW_004624810:5,421,522...5,428,848 		JBrowse link
congenital myopathy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:31092906 PMID:32214227 NCBI chrNW_004624764:3,853,055...3,951,182
Ensembl chrNW_004624764:3,853,055...3,947,521 		JBrowse link
degenerative disc disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan treatment ISO mRNA:decreased expression:intervertebral disk
associated with Renal Insufficiency		 RGD PMID:19063844 PMID:24285589 RGD:10043178 RGD:11570539 NCBI chrNW_004624768:16,093,552...16,156,655 JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 ISO RGD PMID:22394620 RGD:10043115 NCBI chrNW_004624794:187,589...196,465
Ensembl chrNW_004624794:188,207...198,934 		JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 ISO mRNA:increased expression:intervertebral disk of cervical vertebra RGD PMID:20948465 PMID:22394620 RGD:10043115 RGD:8661231 NCBI chrNW_004624745:14,890,111...14,934,972
Ensembl chrNW_004624745:14,896,340...14,935,016 		JBrowse link
G Aspn asporin severity
susceptibility		 ISO mRNA:increased expression:intervertebral disk:
DNA:repeats:exon:		 RGD PMID:18304494 PMID:19327154 RGD:9684961 RGD:9684970 NCBI chrNW_004624868:3,897,633...3,920,307
Ensembl chrNW_004624868:3,897,514...3,920,383 		JBrowse link
G Atg7 autophagy related 7 ameliorates ISO RGD PMID:33372336 RGD:407571673 NCBI chrNW_004624943:231,978...480,933
Ensembl chrNW_004624943:232,618...481,290 		JBrowse link
G Becn1 beclin 1 ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chrNW_004624795:1,386,154...1,406,314
Ensembl chrNW_004624795:1,385,756...1,405,714 		JBrowse link
G Col10a1 collagen type X alpha 1 chain ISO RGD PMID:20948465 RGD:8661231 NCBI chrNW_004624856:2,366,524...2,372,928
Ensembl chrNW_004624856:2,335,986...2,372,848 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP: :rs2075555 (human) RGD PMID:19180518 RGD:5688293 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Col2a1 collagen type II alpha 1 chain treatment ISO mRNA:decreased expression:intervertebral disc (rat)
associated with Renal Insufficiency		 RGD PMID:19063844 PMID:20948465 PMID:24285589 RGD:10043178 RGD:11570539 RGD:8661231 NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
G Crk CRK proto-oncogene, adaptor protein treatment ISO RGD PMID:23055810 RGD:11568070 NCBI chrNW_004624786:4,153,783...4,177,611
Ensembl chrNW_004624786:4,153,889...4,177,716 		JBrowse link
G Elavl1 ELAV like RNA binding protein 1 ISO associated with diabetes mellitus;protein:decreased expression:nucleus pulposus RGD PMID:33372336 RGD:407571673 NCBI chrNW_004624828:913,001...948,826
Ensembl chrNW_004624828:914,141...948,831 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO associated with Progeria RGD PMID:20973062 RGD:13207419 NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO RGD PMID:29208967 RGD:405650595 NCBI chrNW_004624734:26,424,053...26,427,431
Ensembl chrNW_004624734:26,423,079...26,427,732 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:29393545 RGD:13792726 NCBI chrNW_004624731:28,178,647...28,368,784
Ensembl chrNW_004624731:28,178,628...28,366,420 		JBrowse link
G Map1lc3a microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chrNW_004624842:4,800,533...4,802,235
Ensembl chrNW_004624842:4,800,539...4,802,094 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:19916288 RGD:7207382 NCBI chrNW_004624878:71,642...79,660
Ensembl chrNW_004624878:71,642...79,602 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO mRNA:increased expression:intervertebral disc
associated with Renal Insufficiency		 RGD PMID:19063844 PMID:20472983 PMID:20948465 RGD:10043178 RGD:2325859 RGD:8661231 NCBI chrNW_004624918:2,228,688...2,239,852 JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO mRNA:increased expression:intervertebral disc RGD PMID:20472983 PMID:20948465 RGD:2325859 RGD:8661231 NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075 		JBrowse link
G Ngf nerve growth factor ISO RGD PMID:20973063 RGD:5144150 NCBI chrNW_004624772:11,009,765...11,070,050
Ensembl chrNW_004624772:11,010,845...11,070,017 		JBrowse link
G Ngfr nerve growth factor receptor ISO RGD PMID:20973063 RGD:5144150 NCBI chrNW_004624795:5,623,686...5,639,545
Ensembl chrNW_004624795:5,623,700...5,639,655 		JBrowse link
G Pappa pappalysin 1 ISO protein:increased expression:vertebral disc: RGD PMID:18552658 RGD:10412724 NCBI chrNW_004624760:18,842,353...19,078,657
Ensembl chrNW_004624760:18,848,021...19,078,657 		JBrowse link
G Postn periostin ISO mRNA,protein:increased expression:nucleus pulposus:
protein:increased expression:tail intervertebral disc: 		RGD PMID:23453657 RGD:10040995 NCBI chrNW_004624920:542,479...575,760
Ensembl chrNW_004624920:540,750...575,855 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714283 NCBI chrNW_004624733:37,348,993...37,369,804
Ensembl chrNW_004624733:37,338,284...37,369,804 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21351055 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO associated with Renal Insufficiency RGD PMID:19063844 RGD:10043178 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34600870 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 (Colton blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chrNW_004624783:164,615...177,317
Ensembl chrNW_004624783:164,609...177,766 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chrNW_004624739:114,383...161,010
Ensembl chrNW_004624739:114,342...161,044 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chrNW_004624739:770,775...791,251
Ensembl chrNW_004624739:770,808...781,949 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chrNW_004624739:172,111...211,229
Ensembl chrNW_004624739:171,777...211,164 		JBrowse link
G Ggct gamma-glutamylcyclotransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chrNW_004624739:260,777...271,460
Ensembl chrNW_004624739:217,223...274,710 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chrNW_004624783:200,935...214,453
Ensembl chrNW_004624783:200,940...214,373 		JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chrNW_004624783:17,712...22,867
Ensembl chrNW_004624783:17,084...20,921 		JBrowse link
G Mindy4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chrNW_004624783:30,259...146,524
Ensembl chrNW_004624783:30,277...146,184 		JBrowse link
G Mturn maturin, neural progenitor differentiation regulator homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chrNW_004624739:626,141...649,791
Ensembl chrNW_004624739:626,141...650,645 		JBrowse link
G Nod1 nucleotide binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chrNW_004624739:285,791...339,752
Ensembl chrNW_004624739:285,689...341,956 		JBrowse link
G Plekha8 pleckstrin homology domain containing A8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chrNW_004624739:692,511...769,161 JBrowse link
G Znrf2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chrNW_004624739:360,118...497,626
Ensembl chrNW_004624739:385,359...497,597 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chrNW_004624778:15,979,350...17,225,263
Ensembl chrNW_004624778:15,979,467...17,222,039 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624927:872,197...887,316
Ensembl chrNW_004624927:872,197...887,079 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar		 PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 More... NCBI chrNW_004624927:872,197...887,316
Ensembl chrNW_004624927:872,197...887,079 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar		 PMID:25741868 PMID:28250456 PMID:28492532 NCBI chrNW_004624778:15,979,350...17,225,263
Ensembl chrNW_004624778:15,979,467...17,222,039 		JBrowse link
hypochondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Hypochondroplasia OMIM
ClinVar		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
idiopathic scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO MouseDO NCBI chrNW_004624753:11,676,967...11,807,444
Ensembl chrNW_004624753:11,682,165...11,806,318 		JBrowse link
G Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Idiopathic scoliosis ClinVar PMID:25741868 PMID:28492532 PMID:29240829 NCBI chrNW_004624772:4,990,185...5,014,008
Ensembl chrNW_004624772:4,990,178...5,014,119 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 3 ClinVar PMID:17436250 PMID:23883829 PMID:25741868 NCBI chrNW_004624744:31,103,053...31,302,314
Ensembl chrNW_004624744:31,103,059...31,235,623 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:25741868 NCBI chrNW_004624770:10,223,131...10,471,309
Ensembl chrNW_004624770:10,225,669...10,345,173 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:21552264 PMID:25741868 PMID:28492532 NCBI chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:28714182 NCBI chrNW_004624849:5,655,631...5,661,779
Ensembl chrNW_004624849:5,656,515...5,664,721 		JBrowse link
G Mbtps1 membrane bound transcription factor peptidase, site 1 ISO MouseDO NCBI chrNW_004624746:3,466,723...3,521,830
Ensembl chrNW_004624746:3,455,995...3,523,262 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO MouseDO NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO MouseDO NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO MouseDO NCBI chrNW_004624764:9,192,067...9,218,617
Ensembl chrNW_004624764:9,191,556...9,248,252 		JBrowse link
Intervertebral Disc Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspn asporin susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chrNW_004624868:3,897,633...3,920,307
Ensembl chrNW_004624868:3,897,514...3,920,383 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:increased expression:intervertebral disc RGD PMID:37888810 RGD:405850252 NCBI chrNW_004624766:17,281,882...17,330,601
Ensembl chrNW_004624766:17,279,630...17,330,490 		JBrowse link
G Cilp cartilage intermediate layer protein susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chrNW_004624781:7,289,142...7,307,244
Ensembl chrNW_004624781:7,293,328...7,308,501 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:17999364 PMID:25741868 PMID:26377240 More... NCBI chrNW_004624857:5,817,472...6,176,421
Ensembl chrNW_004624857:5,817,475...6,029,107 		JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association ISO DNA:polymorphism
DNA:insertion		 RGD PMID:15994869 PMID:18694864 RGD:5688295 RGD:5688297 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to ClinVar
OMIM		 PMID:11308397 PMID:24273071 PMID:25741868 PMID:28492532 PMID:31090205 More... NCBI chrNW_004624741:28,591,529...28,610,382 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:intervertebral disc RGD PMID:37888810 RGD:405850252 NCBI chrNW_004624759:17,263,570...17,290,046
Ensembl chrNW_004624759:17,263,969...17,287,723 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) RGD PMID:21243740 RGD:9068928 NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705 		JBrowse link
G Thbs2 thrombospondin 2 ISO ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to OMIM
ClinVar		 PMID:18455130 NCBI chrNW_004624850:5,072,070...5,104,865
Ensembl chrNW_004624850:5,071,512...5,105,074 		JBrowse link
Intervertebral Disc Displacement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 disease_progression ISO RGD PMID:21590431 RGD:5509092 NCBI chrNW_004624734:507,880...525,295
Ensembl chrNW_004624734:509,368...525,295 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16372267 RGD:5685665 NCBI chrNW_004624784:12,237,329...12,240,013
Ensembl chrNW_004624784:12,233,593...12,239,763 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:increased expression:dorsal root ganglion: RGD PMID:14615047 RGD:8657329 NCBI chrNW_004624766:17,281,882...17,330,601
Ensembl chrNW_004624766:17,279,630...17,330,490 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999364 NCBI chrNW_004624857:5,817,472...6,176,421
Ensembl chrNW_004624857:5,817,475...6,029,107 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chrNW_004624746:28,677,956...28,688,638
Ensembl chrNW_004624746:28,677,709...28,689,122 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chrNW_004624731:1,705,953...1,719,452
Ensembl chrNW_004624731:1,706,043...1,719,452 		JBrowse link
G Gc GC vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid RGD PMID:16868893 RGD:5509883 NCBI chrNW_004624890:3,274,239...3,318,281
Ensembl chrNW_004624890:3,226,900...3,318,316 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha severity ISO RGD PMID:33455530 RGD:407532702 NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:25584948 RGD:401938625 NCBI chrNW_004624748:8,154,288...8,223,226
Ensembl chrNW_004624748:8,155,107...8,223,259 		JBrowse link
G Igf1 insulin like growth factor 1 ISO RGD PMID:21037532 RGD:8549460 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Il1rl1 interleukin 1 receptor like 1 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701 		JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864 		JBrowse link
G Kmt2d lysine methyltransferase 2D severity ISO RGD PMID:32599142 RGD:155598599 NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:24826482 RGD:10450584 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO human protein in rat model RGD PMID:21057386 RGD:5131270 NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 More... NCBI chrNW_004624761:14,087,772...14,104,348
Ensembl chrNW_004624761:14,089,900...14,104,408 		JBrowse link
Kyphoscoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chrNW_004624739:3,420,501...3,424,151
Ensembl chrNW_004624739:3,418,723...3,423,950 		JBrowse link
G Hoxc10 homeobox C10 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chrNW_004624904:2,040,018...2,044,881
Ensembl chrNW_004624904:2,039,754...2,045,096 		JBrowse link
G Hoxd10 homeobox D10 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chrNW_004624787:13,256,600...13,260,664
Ensembl chrNW_004624787:13,257,387...13,262,685 		JBrowse link
kyphosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp1 elongator acetyltransferase complex subunit 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chrNW_004624758:2,575,516...2,646,313
Ensembl chrNW_004624758:2,575,671...2,646,313 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Kyphosis ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More... NCBI chrNW_004624795:1,936,714...1,942,667
Ensembl chrNW_004624795:1,937,173...1,942,483 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 NCBI chrNW_004624767:20,845,949...20,861,169
Ensembl chrNW_004624767:20,845,949...20,860,673 		JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chrNW_004624807:446,662...478,571
Ensembl chrNW_004624807:446,647...479,069 		JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15666309 NCBI chrNW_004624818:1,070,841...1,092,346
Ensembl chrNW_004624818:1,071,505...1,092,237 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chrNW_004624774:9,258,057...9,273,722
Ensembl chrNW_004624774:9,257,682...9,269,753 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 NCBI chrNW_004624767:1,368,965...1,376,378
Ensembl chrNW_004624767:1,368,965...1,375,586 		JBrowse link
Lordosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO RGD PMID:9192671 RGD:1300269 NCBI chrNW_004624768:16,093,552...16,156,655 JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rin2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: MACS SYNDROME | ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS OMIM
ClinVar		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chrNW_004624741:20,338,306...20,537,500
Ensembl chrNW_004624741:20,441,972...20,536,464 		JBrowse link
parastremmatic dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Parastremmatic dwarfism OMIM
ClinVar		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chrNW_004624747:10,675,625...10,685,351 JBrowse link
rigid spine muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine ClinVar PMID:25182138 PMID:27854218 NCBI chrNW_004624775:19,650,923...19,653,707
Ensembl chrNW_004624775:19,650,822...19,654,730 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO ClinVar Annotator: match by term: Rigid spine syndrome ClinVar PMID:25741868 NCBI chrNW_004624759:11,826,793...11,847,111
Ensembl chrNW_004624759:11,826,876...11,847,111 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chrNW_004624764:9,675,917...9,699,597
Ensembl chrNW_004624764:9,675,845...9,699,597 		JBrowse link
G Man1c1 mannosidase alpha class 1C member 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chrNW_004624764:9,745,726...9,876,968
Ensembl chrNW_004624764:9,745,011...9,879,204 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21674524 PMID:21911697 More... NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314 		JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED | ClinVar Annotator: match by term: SEPN1-related disorder OMIM
ClinVar		 PMID:1219264 PMID:7224095 PMID:9536098 PMID:9585610 PMID:11079538 More... NCBI chrNW_004624764:9,892,161...9,905,984
Ensembl chrNW_004624764:9,892,176...9,903,990 		JBrowse link
Scheuermann's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec3b C-type lectin domain family 3 member B ISO OMIM:181440 MouseDO NCBI chrNW_004624730:75,531,320...75,535,875
Ensembl chrNW_004624730:75,530,770...75,536,248 		JBrowse link
G Nfix nuclear factor I X ISO OMIM:181440 MouseDO NCBI chrNW_004624901:551,277...645,435
Ensembl chrNW_004624901:550,931...646,417 		JBrowse link
scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chrNW_004624786:10,666,255...10,689,204
Ensembl chrNW_004624786:10,666,423...10,688,376 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chrNW_004624744:31,103,053...31,302,314
Ensembl chrNW_004624744:31,103,059...31,235,623 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624843:5,297,025...5,301,714
Ensembl chrNW_004624843:5,297,059...5,301,699 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chrNW_004624794:12,806,299...12,816,048
Ensembl chrNW_004624794:12,806,868...12,815,582 		JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chrNW_004624758:2,575,516...2,646,313
Ensembl chrNW_004624758:2,575,671...2,646,313 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital scoliosis | ClinVar Annotator: match by term: Scoliosis ClinVar PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		JBrowse link
G Fbn2 fibrillin 2 ISO DNA:frameshift mutation, missense mutations:exon:multiple RGD PMID:24833718 RGD:12910484 NCBI chrNW_004624774:12,863,446...13,116,929
Ensembl chrNW_004624774:12,863,446...13,116,545 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO MouseDO NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chrNW_004624730:58,679,945...58,743,688
Ensembl chrNW_004624730:58,680,030...58,743,229 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:19864492 PMID:25741868 PMID:28492532 NCBI chrNW_004624860:4,968,624...4,970,362 JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chrNW_004624795:395,298...400,781
Ensembl chrNW_004624795:394,436...401,231 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chrNW_004624743:33,424,705...33,435,767
Ensembl chrNW_004624743:33,423,342...33,435,721 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chrNW_004624786:10,692,329...10,699,346
Ensembl chrNW_004624786:10,692,329...10,695,132 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624741:11,647,723...11,683,137
Ensembl chrNW_004624741:11,647,463...11,683,488 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chrNW_004624818:2,282,999...2,428,586
Ensembl chrNW_004624818:2,282,999...2,428,563 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:intervertebral disc (rat) RGD PMID:21554726 RGD:7207288 NCBI chrNW_004624878:71,642...79,660
Ensembl chrNW_004624878:71,642...79,602 		JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:10844060 PMID:29887215 NCBI chrNW_004624837:33,735...36,052
Ensembl chrNW_004624837:33,864...35,837 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:11992261 PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:24194475 PMID:35614220 NCBI chrNW_004624842:2,882,252...2,895,047
Ensembl chrNW_004624842:2,882,097...2,894,973 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:17483490 PMID:18253926 PMID:19191329 PMID:19645060 PMID:21062345 More... NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 More... NCBI chrNW_004624774:8,391,285...8,454,828
Ensembl chrNW_004624774:8,398,925...8,454,774 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chrNW_004624808:6,167,512...6,169,603
Ensembl chrNW_004624808:6,167,512...6,168,891 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25564734 PMID:25741868 PMID:28054739 PMID:28492532 PMID:31015262 More... NCBI chrNW_004624782:13,169,096...13,174,498
Ensembl chrNW_004624782:13,169,719...13,174,056 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chrNW_004624826:4,064,126...4,118,176 JBrowse link
G Tph1 tryptophan hydroxylase 1 no_association ISO DNA:SNP:promoter: (rs10488682) (human)
DNA:SNPs:multiple		 RGD PMID:18794762 PMID:21192222 PMID:21308753 RGD:5686347 RGD:5686348 RGD:5686349 NCBI chrNW_004624766:9,629,951...9,687,772
Ensembl chrNW_004624766:9,629,849...9,668,393 		JBrowse link
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a7 solute carrier family 10 member 7 ISO ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:29878199 PMID:30082715 NCBI chrNW_004624853:5,110,729...5,365,312
Ensembl chrNW_004624853:5,113,153...5,365,339 		JBrowse link
Spinal Curvatures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chrNW_004624872:462,778...520,217
Ensembl chrNW_004624872:462,916...520,323 		JBrowse link
spondylocarpotarsal synostosis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome OMIM
ClinVar		 PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 More... NCBI chrNW_004624821:691,291...835,244
Ensembl chrNW_004624821:691,272...836,322 		JBrowse link
G LOC101698672 myosin-3 ISO ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 More... NCBI chrNW_004624786:12,987,230...13,008,404
Ensembl chrNW_004624786:12,987,376...13,009,135 		JBrowse link
spondylolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO DNA:mutations:cds:c.2286A>T(p.D673V), c.1922A>G(p.H641R),g.18654T>C(human) RGD PMID:26077908 RGD:13208868 NCBI chrNW_004624774:9,258,057...9,273,722
Ensembl chrNW_004624774:9,257,682...9,269,753 		JBrowse link
spondylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl klotho susceptibility ISO RGD PMID:12110410 RGD:10403053 NCBI chrNW_004624915:95,155...110,834 JBrowse link
Tsukahara Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation ClinVar PMID:25741868 NCBI chrNW_004624806:5,624,108...6,106,630
Ensembl chrNW_004624806:5,622,629...6,074,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      musculoskeletal system disease 7406
        bone disease 3726
          bone structure disease 123
            Spinal Curvatures + 79
            bone deterioration disease + 44
            scoliosis + 66
            spondylolisthesis + 0
            spondylolysis + 1
            spondylosis + 2
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      musculoskeletal system disease 7406
        connective tissue disease 5075
          bone disease 3726
            bone structure disease 123
              Spinal Curvatures + 79
              bone deterioration disease + 44
              scoliosis + 66
              spondylolisthesis + 0
              spondylolysis + 1
              spondylosis + 2
paths to the root