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Term:Jarcho-Levin Syndrome
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Accession:DOID:9007004 term browser browse the term
Definition:A heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), misalignment of the ribs with variable points of intercostal fusion, and a broadly symmetric thoracic cage.
Synonyms:exact_synonym: DLL3-RELATED DISORDER;   SCDO1;   costovertebral dysplasia;   spondylocostal dysostosis 1, autosomal recessive;   spondylocostal dysplasia, recessive form;   spondylothoracic dysostosis
 primary_id: MESH:C537565
 alt_id: OMIM:277300;   RDO:0003429;   RDO:0008525
For additional species annotation, visit the Alliance of Genome Resources.

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Jarcho-Levin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll3 delta like canonical Notch ligand 3 JBrowse link 1 85,485,875 85,493,683 RGD:8554872
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link 1 141,550,633 141,553,239 RGD:8554872

Term paths to the root
Path 1
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  disease 15553
    syndrome 5224
      Jarcho-Levin Syndrome 2
Path 2
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  disease 15553
    disease of anatomical entity 14837
      Urogenital Diseases 3998
        Female Urogenital Diseases and Pregnancy Complications 1756
          Female Urogenital Diseases 1466
            female reproductive system disease 1462
              prolapse of female genital organ 152
                enterocele 152
                  Diaphragmatic Hernia 96
                    Jarcho-Levin Syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.