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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:spondylocostal dysostosis
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Accession:DOID:0050568 term browser browse the term
Definition:A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. (DO)
Synonyms:exact_synonym: costovertebral segmentation anomalies;   spondylocostal dysostosis, autosomal recessive 3;   spondylothoracic dysplasia
 xref: GARD:12174;   GARD:6798;   NCI:C125598;   OMIM:PS277300;   ORDO:1797;   ORDO:2311
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
spondylocostal dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr10:55,704,485...55,710,523
Ensembl chr10:55,707,164...55,709,687
JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISS
ISO
OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686
ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive
MouseDO
ClinVar
PMID:16385447 PMID:25741868 PMID:28492532 PMID:30531807 NCBI chr12:16,117,767...16,126,211
Ensembl chr12:16,118,634...16,126,953
JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr 1:141,550,633...141,553,239
Ensembl chr 1:141,550,633...141,553,230
JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr 8:94,676,579...94,691,125
Ensembl chr 8:94,686,938...94,691,041
JBrowse link
G Tbx6 T-box transcription factor 6 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
JBrowse link
Jarcho-Levin Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by OMIM:277300
ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar
OMIM
PMID:2805381 PMID:9536098 PMID:10742114 PMID:12791036 PMID:15200511 PMID:15717203 PMID:17576681 PMID:18485326 PMID:25741868 PMID:28492532 NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar Annotator: match by term: Jarcho-Levin syndrome
ClinVar PMID:25741868 NCBI chr 1:141,550,633...141,553,239
Ensembl chr 1:141,550,633...141,553,230
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:25741868 NCBI chr 1:85,386,492...85,399,699
Ensembl chr 1:85,386,470...85,399,699
JBrowse link
Spondylocostal Dysostosis 2, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive OMIM
ClinVar
PMID:15122512 PMID:18485326 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:141,550,633...141,553,239
Ensembl chr 1:141,550,633...141,553,230
JBrowse link
Spondylocostal Dysostosis 3, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by OMIM:609813
ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive
OMIM
ClinVar
PMID:16385447 PMID:25741868 PMID:28492532 PMID:30531807 NCBI chr12:16,117,767...16,126,211
Ensembl chr12:16,118,634...16,126,953
JBrowse link
Spondylocostal Dysostosis 4, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 4, autosomal recessive
ClinVar Annotator: match by OMIM:613686
OMIM
ClinVar
PMID:18775957 PMID:25741868 NCBI chr10:55,704,485...55,710,523
Ensembl chr10:55,707,164...55,709,687
JBrowse link
Spondylocostal Dysostosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,379,060...198,382,982
Ensembl chr 1:198,379,022...198,382,614
JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,409,186...198,413,497
Ensembl chr 1:198,409,360...198,413,497
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,282,828...198,288,611
Ensembl chr 1:198,284,473...198,288,113
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSPLASIA ClinVar PMID:18775957 PMID:20087400 PMID:23897666 NCBI chr10:55,704,485...55,710,523
Ensembl chr10:55,707,164...55,709,687
JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,298,138...198,301,164
Ensembl chr 1:198,298,138...198,301,161
JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,287,489...198,298,076
Ensembl chr 1:198,287,490...198,298,076
JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,360,627...198,378,935
Ensembl chr 1:198,360,627...198,378,934
JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,461,406...198,476,430
Ensembl chr 1:198,461,169...198,476,476
JBrowse link
G LOC308990 hypothetical protein LOC308990 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,528,569...198,531,585
Ensembl chr 1:198,528,635...198,531,201
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,456,699...198,460,126
Ensembl chr 1:198,456,699...198,460,126
JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,448,790...198,451,078
Ensembl chr 1:198,449,040...198,450,688
JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,219,012...198,225,775
Ensembl chr 1:198,219,054...198,225,580
JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,544,262...198,559,556
Ensembl chr 1:198,544,262...198,559,568
JBrowse link
G RGD1563217 similar to RIKEN cDNA 4930451I11 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,260,711...198,268,056
Ensembl chr 1:198,266,108...198,267,093
JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,383,201...198,403,544
Ensembl chr 1:198,383,201...198,403,544
JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,572,999...198,585,664
Ensembl chr 1:198,572,999...198,577,226
JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,301,789...198,354,601
Ensembl chr 1:198,301,938...198,320,075
JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5
ClinVar Annotator: match by OMIM:122600
ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSPLASIA
OMIM
ClinVar
PMID:20503311 PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 PMID:27861764 PMID:28054739 PMID:28492532 PMID:31015262 NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,252,208...198,265,840
Ensembl chr 1:198,259,496...198,265,839
JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,322,276...198,360,552
Ensembl chr 1:198,324,857...198,354,466
JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,210,525...198,213,821
Ensembl chr 1:198,210,525...198,213,816
JBrowse link
G Zg16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 NCBI chr 1:198,483,800...198,486,157
Ensembl chr 1:198,483,805...198,486,157
JBrowse link
Spondylocostal Dysostosis 6, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 6, autosomal recessive OMIM
ClinVar
PMID:25343988 PMID:25741868 PMID:28492532 NCBI chr 8:94,676,579...94,691,125
Ensembl chr 8:94,686,938...94,691,041
JBrowse link
Spondylocostal Dysostosis, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:55,704,485...55,710,523
Ensembl chr10:55,707,164...55,709,687
JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:16,117,767...16,126,211
Ensembl chr12:16,118,634...16,126,953
JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:141,550,633...141,553,239
Ensembl chr 1:141,550,633...141,553,230
JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:94,676,579...94,691,125
Ensembl chr 8:94,686,938...94,691,041
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      bone development disease 1392
        dysostosis 391
          spondylocostal dysostosis 34
            Spondylocostal Dysostosis 4, Autosomal Dominant 0
            Spondylocostal Dysostosis 5 28
            Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 0
            Spondylocostal Dysostosis, Autosomal Recessive + 6
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      musculoskeletal system disease 6301
        connective tissue disease 4386
          bone disease 3068
            bone development disease 1392
              dysostosis 391
                spondylocostal dysostosis 34
                  Spondylocostal Dysostosis 4, Autosomal Dominant 0
                  Spondylocostal Dysostosis 5 28
                  Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 0
                  Spondylocostal Dysostosis, Autosomal Recessive + 6
paths to the root