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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:scoliosis
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Accession:DOID:0060249 term browser browse the term
Definition:A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. (DO)
Synonyms:exact_synonym: Scolioses
 narrow_synonym: CONGENITAL SCOLIOSIS
 primary_id: MESH:D012600
 xref: ICD10CM:M41.9;   NCI:C78603
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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 chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Scoliosis
ClinVar Annotator: match by term: Congenital scoliosis
DNA:missense mutations:exon:multiple
ClinVar
RGD
PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... RGD:12910484 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fbn2 fibrillin 2 ISO DNA:frameshift mutation, missense mutations:exon:multiple RGD PMID:24833718 RGD:12910484 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISS MouseDO NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:19864492 PMID:25741868 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Mmp1 matrix metallopeptidase 1 IEP protein:increased expression:intervertebral disc (rat) RGD PMID:21554726 RGD:7207288 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:10844060 PMID:29887215 NCBI chr 7:42,802,946...42,806,177
Ensembl chr 7:42,802,946...42,806,177
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:24033266 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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 chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:20220177 PMID:21291453 PMID:22950825 PMID:23806086 PMID:25741868 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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 NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
JBrowse link
G Tph1 tryptophan hydroxylase 1 no_association ISO DNA:SNP:promoter: (rs10488682) (human)
DNA:SNPs:multiple
RGD PMID:18794762 PMID:21308753 PMID:21192222 RGD:5686347, RGD:5686349, RGD:5686348 NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344
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 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 OMIM:614557
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
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 chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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 chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2
ClinVar
OMIM
PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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 CTD Direct Evidence: marker/mechanism CTD PMID:23666238 NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Idiopathic scoliosis ClinVar PMID:29240829 NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis, idiopathic 3 ClinVar PMID:17436250 PMID:23883829 PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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 chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:28714182 NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
JBrowse link
Kyphoscoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
JBrowse link
G Hoxc10 homeo box C10 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 7:134,103,741...134,108,966
Ensembl chr 7:134,103,643...134,108,966
JBrowse link
G Hoxd10 homeo box D10 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
JBrowse link
G Hoxd11 homeobox D11 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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: Macrocephaly, alopecia, cutis laxa, and scoliosis
ClinVar Annotator: match by OMIM:613075
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604
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 chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
Progressive Congenital Myopathy with Scoliosis 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
ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis
ClinVar
OMIM
PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 5:151,996,368...152,098,023
Ensembl chr 5:151,999,092...152,097,979
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:27854218 NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
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:20583297 PMID:21674524 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Selenon selenoprotein N ISO DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy
ClinVar Annotator: match by OMIM:602771
ClinVar
OMIM
RGD
PMID:1219264 PMID:7224095 PMID:9536098 PMID:11079538 PMID:11528383 More... RGD:1599352 NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Classic multiminicore myopathy ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome ClinVar
OMIM
PMID:9326317 PMID:10713884 PMID:10750558 PMID:11432960 PMID:16283885 More... NCBI chr 3:79,665,415...79,798,077
Ensembl chr 3:79,665,415...79,798,059
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:29878199 PMID:30082715 NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464
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: Spondylocarpotarsal synostosis syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:272460
OMIM
ClinVar
CTD
RGD
PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 More... RGD:12791028 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome ClinVar PMID:25741868 PMID:29805041 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
Tsukahara Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation ClinVar PMID:25741868 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      musculoskeletal system disease 6483
        bone disease 3126
          spinal disease 929
            Spinal Curvatures 57
              scoliosis 43
                Acrodysplasia Scoliosis 0
                Cervical Hypertrichosis with Underlying Kyphoscoliosis 0
                Coffin Syndrome 1 0
                Daish Hardman Lamont Syndrome 0
                Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                Familial Horizontal Gaze Palsy with Progressive Scoliosis + 2
                Iida Kannari Syndrome 0
                Kyphoscoliosis + 5
                Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
                Omphalocele Exstrophy Imperforate Anus 0
                Pilotto Syndrome 0
                Prata Libéral Gonçalves Syndrome 0
                Progressive Congenital Myopathy with Scoliosis 1
                Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 0
                SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
                Scoliosis, Arachnodactyly, and Blindness 0
                Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
                Shprintzen Omphalocele Syndrome 0
                Tsukahara Syndrome 1
                Waaler Aarskog Syndrome 0
                idiopathic scoliosis 5
                parastremmatic dwarfism 1
                rigid spine muscular dystrophy 1 4
                spondylocarpotarsal synostosis syndrome 2
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Skin and Connective Tissue Diseases 5876
        connective tissue disease 4452
          bone disease 3126
            spinal disease 929
              bone structure disease 87
                Spinal Curvatures 57
                  scoliosis 43
                    Acrodysplasia Scoliosis 0
                    Cervical Hypertrichosis with Underlying Kyphoscoliosis 0
                    Coffin Syndrome 1 0
                    Daish Hardman Lamont Syndrome 0
                    Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                    Familial Horizontal Gaze Palsy with Progressive Scoliosis + 2
                    Iida Kannari Syndrome 0
                    Kyphoscoliosis + 5
                    Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
                    Omphalocele Exstrophy Imperforate Anus 0
                    Pilotto Syndrome 0
                    Prata Libéral Gonçalves Syndrome 0
                    Progressive Congenital Myopathy with Scoliosis 1
                    Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 0
                    SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 1
                    Scoliosis, Arachnodactyly, and Blindness 0
                    Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 1
                    Shprintzen Omphalocele Syndrome 0
                    Tsukahara Syndrome 1
                    Waaler Aarskog Syndrome 0
                    idiopathic scoliosis 5
                    parastremmatic dwarfism 1
                    rigid spine muscular dystrophy 1 4
                    spondylocarpotarsal synostosis syndrome 2
paths to the root