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ONTOLOGY REPORT - ANNOTATIONS


Term:Spondylocostal Dysostosis, Autosomal Recessive
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Accession:DOID:9006006 term browser browse the term
Synonyms:exact_synonym: COSTOVERTEBRAL DYSPLASIA;   SPONDYLOTHORACIC DYSPLASIA;   VERTEBRAL ANOMALIES
 primary_id: MESH:C535781
 alt_id: OMIA:001944;   RDO:0001085
For additional species annotation, visit the Alliance of Genome Resources.


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Spondylocostal Dysostosis, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll3 delta like canonical Notch ligand 3 JBrowse link 7 28,293,555 28,301,785 RGD:11554173
RGD:8554872
G Hes7 hes family bHLH transcription factor 7 JBrowse link 11 69,118,906 69,124,054 RGD:11554173
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase JBrowse link 5 140,607,341 140,615,545 RGD:11554173
G Mesp2 mesoderm posterior 2 JBrowse link 7 79,810,727 79,813,431 RGD:11554173
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 JBrowse link 7 28,359,603 28,372,681 RGD:8554872
G Ripply2 ripply transcriptional repressor 2 JBrowse link 9 87,015,309 87,020,441 RGD:11554173
Jarcho-Levin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll3 delta like canonical Notch ligand 3 JBrowse link 7 28,293,555 28,301,785 RGD:8554872
RGD:7240710
G Mesp2 mesoderm posterior 2 JBrowse link 7 79,810,727 79,813,431 RGD:8554872
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 JBrowse link 7 28,359,603 28,372,681 RGD:8554872
Spondylocostal Dysostosis 2, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mesp2 mesoderm posterior 2 JBrowse link 7 79,810,727 79,813,431 RGD:7240710
RGD:8554872
Spondylocostal Dysostosis 3, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase JBrowse link 5 140,607,341 140,615,545 RGD:7240710
RGD:8554872
Spondylocostal Dysostosis 4, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hes7 hes family bHLH transcription factor 7 JBrowse link 11 69,118,906 69,124,054 RGD:7240710
RGD:8554872
Spondylocostal Dysostosis 6, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripply2 ripply transcriptional repressor 2 JBrowse link 9 87,015,309 87,020,441 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13045
    Developmental Diseases 9105
      bone development disease 1250
        dysostosis 316
          spondylocostal dysostosis 33
            Spondylocostal Dysostosis, Autosomal Recessive 6
              Jarcho-Levin Syndrome 3
              Spondylocostal Dysostosis 2, Autosomal Recessive 1
              Spondylocostal Dysostosis 3, Autosomal Recessive 1
              Spondylocostal Dysostosis 4, Autosomal Recessive 1
              Spondylocostal Dysostosis 6, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 13045
    disease of anatomical entity 12696
      musculoskeletal system disease 5142
        connective tissue disease 3620
          bone disease 3084
            bone development disease 1250
              dysostosis 316
                spondylocostal dysostosis 33
                  Spondylocostal Dysostosis, Autosomal Recessive 6
                    Jarcho-Levin Syndrome 3
                    Spondylocostal Dysostosis 2, Autosomal Recessive 1
                    Spondylocostal Dysostosis 3, Autosomal Recessive 1
                    Spondylocostal Dysostosis 4, Autosomal Recessive 1
                    Spondylocostal Dysostosis 6, Autosomal Recessive 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.