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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 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097
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 chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008
JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr 8:87,974,444...87,978,996
Ensembl chr 8:87,974,776...87,978,969
JBrowse link
G Tbx6 T-box transcription factor 6 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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 More... NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
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 PMID:28492532 NCBI chr 1:83,651,856...83,666,046
Ensembl chr 1:83,647,748...83,665,063
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:9242490 PMID:15122512 PMID:18485326 PMID:24033266 PMID:25741868 More... NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
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 chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008
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 chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097
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 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090
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 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
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 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
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 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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 chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097
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 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079
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 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
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 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
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 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835
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 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
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 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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 1:181,622,708...181,624,996 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 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486
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 1:181,434,524...181,441,000 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 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
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 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
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 More... NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472
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 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
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 1:181,657,722...181,660,079
Ensembl chr 1:181,657,722...181,660,079
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:28492532 NCBI chr 8:87,974,444...87,978,996
Ensembl chr 8:87,974,776...87,978,969
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 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097
JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008
JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:87,974,444...87,978,996
Ensembl chr 8:87,974,776...87,978,969
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      bone development disease 1424
        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 17435
    disease of anatomical entity 16766
      musculoskeletal system disease 6483
        connective tissue disease 4452
          bone disease 3126
            bone development disease 1424
              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