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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:idiopathic scoliosis
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Accession:DOID:0060250 term browser browse the term
Definition:A scoliosis with no known cause. (DO)
Synonyms:narrow_synonym: ADOLESCENT IDIOPATHIC SCOLIOSIS;   ADOLESCENT ISOLATED SCOLIOSIS;   AIS
 related_synonym: IS1;   IS2;   IS3;   IS4;   IS5;   Isolated Scoliosis, Susceptibility to, 1;   Isolated Scoliosis, Susceptibility to, 2;   Isolated Scoliosis, Susceptibility to, 3;   Isolated Scoliosis, Susceptibility to, 4;   Isolated Scoliosis, Susceptibility to, 5;   idiopathic scoliosis, 3
 alt_id: OMIM:181800;   OMIM:607354;   OMIM:608765;   OMIM:612238;   OMIM:612239
 xref: EFO:0005423;   GARD:552


show annotations for term's descendants           Sort by:
idiopathic scoliosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 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:25741868 PMID:28492532 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, isolated, susceptibility to, 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 Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		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
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISS MouseDO NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISS MouseDO NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISS MouseDO NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISS MouseDO NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        bone disease 4270
          bone structure disease 128
            scoliosis 69
              idiopathic scoliosis 10
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            spinal disease 1092
              Spinal Curvatures 83
                scoliosis 69
                  idiopathic scoliosis 10
paths to the root