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ONTOLOGY REPORT - ANNOTATIONS


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;   OMIM:PS277300;   ORDO:1797;   ORDO:2311
For additional species annotation, visit the Alliance of Genome Resources.


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spondylocostal dysostosis 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:13592920
G Hes7 hes family bHLH transcription factor 7 JBrowse link 10 55,704,485 55,710,523 RGD:13592920
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase JBrowse link 12 16,117,767 16,126,211 RGD:13592920
RGD:8554872
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link 1 141,550,633 141,553,239 RGD:13592920
G Ripply2 ripply transcriptional repressor 2 JBrowse link 8 94,676,579 94,691,125 RGD:13592920
G Tbx6 T-box transcription factor 6 JBrowse link 1 198,214,797 198,218,706 RGD:13592920
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
RGD:7240710
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link 1 141,550,633 141,553,239 RGD:8554872
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 JBrowse link 1 85,386,492 85,399,699 RGD:8554872
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 1 141,550,633 141,553,239 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 12 16,117,767 16,126,211 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 10 55,704,485 55,710,523 RGD:7240710
RGD:8554872
Spondylocostal Dysostosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Asphd1 aspartate beta-hydroxylase domain containing 1 JBrowse link 1 198,379,060 198,382,982 RGD:8554872
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase JBrowse link 1 198,409,186 198,413,497 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:8554872
G Doc2a double C2 domain alpha JBrowse link 1 198,282,828 198,288,611 RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 1 198,199,032 198,209,178 RGD:8554872
G Hes7 hes family bHLH transcription factor 7 JBrowse link 10 55,704,485 55,710,523 RGD:8554872
G Hirip3 HIRA interacting protein 3 JBrowse link 1 198,298,138 198,301,164 RGD:8554872
G Ino80e INO80 complex subunit E JBrowse link 1 198,287,489 198,298,076 RGD:8554872
G Kctd13 potassium channel tetramerization domain containing 13 JBrowse link 1 198,360,627 198,378,935 RGD:8554872
G Kif22 kinesin family member 22 JBrowse link 1 198,461,406 198,476,430 RGD:8554872
G LOC308990 hypothetical protein LOC308990 JBrowse link 1 198,528,569 198,531,585 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:8554872
G Maz MYC associated zinc finger protein JBrowse link 1 198,456,699 198,460,126 RGD:8554872
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Pagr1 Paxip1-associated glutamate-rich protein 1 JBrowse link 1 198,448,790 198,451,078 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
G Qprt quinolinate phosphoribosyltransferase JBrowse link 1 198,544,262 198,559,556 RGD:8554872
G RGD1563217 similar to RIKEN cDNA 4930451I11 JBrowse link 1 198,260,711 198,268,056 RGD:8554872
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
G Spn sialophorin JBrowse link 1 198,572,999 198,585,664 RGD:8554872
G Taok2 TAO kinase 2 JBrowse link 1 198,301,789 198,354,601 RGD:8554872
G Tbx6 T-box transcription factor 6 JBrowse link 1 198,214,797 198,218,706 RGD:7240710
RGD:8554872
G Tlcd3b TLC domain containing 3B JBrowse link 1 198,252,208 198,265,840 RGD:8554872
G Tmem219 transmembrane protein 219 JBrowse link 1 198,322,276 198,360,552 RGD:8554872
G Ypel3 yippee-like 3 JBrowse link 1 198,210,525 198,213,821 RGD:8554872
G Zg16 zymogen granule protein 16 JBrowse link 1 198,483,800 198,486,157 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 8 94,676,579 94,691,125 RGD:7240710
RGD:8554872
Spondylocostal Dysostosis, Autosomal Recessive 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:11554173
G Hes7 hes family bHLH transcription factor 7 JBrowse link 10 55,704,485 55,710,523 RGD:11554173
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase JBrowse link 12 16,117,767 16,126,211 RGD:11554173
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link 1 141,550,633 141,553,239 RGD:11554173
G Ripply2 ripply transcriptional repressor 2 JBrowse link 8 94,676,579 94,691,125 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      bone development disease 1263
        dysostosis 319
          spondylocostal dysostosis 33
            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 16022
    disease of anatomical entity 15275
      musculoskeletal system disease 5539
        connective tissue disease 4007
          bone disease 3471
            bone development disease 1263
              dysostosis 319
                spondylocostal dysostosis 33
                  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

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