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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 NW_004936661 2,322,531 2,330,150 RGD:9068941
G Hes7 hes family bHLH transcription factor 7 JBrowse link NW_004936595 1,352,621 1,355,177 RGD:9068941
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase JBrowse link NW_004936823 283,207 290,970 RGD:9068941
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link NW_004936483 15,555,084 15,557,060 RGD:9068941
G Ripply2 ripply transcriptional repressor 2 JBrowse link NW_004936510 7,101,148 7,106,184 RGD:9068941
Jarcho-Levin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll3 delta like canonical Notch ligand 3 JBrowse link NW_004936661 2,322,531 2,330,150 RGD:7240710
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link NW_004936483 15,555,084 15,557,060 RGD:9068941
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 JBrowse link NW_004936661 2,257,097 2,268,301 RGD:9068941
Spondylocostal Dysostosis 2, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link NW_004936483 15,555,084 15,557,060 RGD:7240710
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 NW_004936823 283,207 290,970 RGD:7240710
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 NW_004936595 1,352,621 1,355,177 RGD:7240710
Spondylocostal Dysostosis 6, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripply2 ripply transcriptional repressor 2 JBrowse link NW_004936510 7,101,148 7,106,184 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11848
    Developmental Diseases 8294
      bone development disease 1182
        dysostosis 300
          spondylocostal dysostosis 32
            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 11848
    disease of anatomical entity 11432
      musculoskeletal system disease 4760
        connective tissue disease 3334
          bone disease 2879
            bone development disease 1182
              dysostosis 300
                spondylocostal dysostosis 32
                  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.