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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, Autosomal Recessive
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Accession:DOID:9006006 term browser browse the term
Synonyms:exact_synonym: COSTOVERTEBRAL DYSPLASIA;   VERTEBRAL ANOMALIES
 primary_id: MESH:C535781
 alt_id: OMIA:001944


show annotations for term's descendants           Sort by:
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...53,828,934
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...87,979,002
Ensembl chr 8:87,974,776...87,978,969 		JBrowse link
spondylocostal dysostosis 1 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 term: DLL3-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive OMIM
ClinVar		 PMID:2805381 PMID:10742114 PMID:12746394 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 PMID:25741868 PMID:28492532 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 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:25741868 PMID:28492532 NCBI chr 8:87,974,444...87,979,002
Ensembl chr 8:87,974,776...87,978,969 		JBrowse link
spondylocostal dysostosis 2 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 2, autosomal recessive ClinVar PMID:18775957 NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:16385447 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 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
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:25343988 PMID:25741868 PMID:28492532 NCBI chr 8:87,974,444...87,979,002
Ensembl chr 8:87,974,776...87,978,969 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:20503311 PMID:23335591 NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
spondylocostal dysostosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive ClinVar PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248 		JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16385447 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008 		JBrowse link
spondylocostal dysostosis 4 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 OMIM
ClinVar		 PMID:18775957 PMID:20087400 PMID:23897666 PMID:25741868 PMID:28492532 NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
spondylocostal dysostosis 6 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:25741868 PMID:28492532 NCBI chr 8:87,974,444...87,979,002
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 18969
    Developmental Disease 14401
      bone development disease 2307
        dysostosis 578
          spondylocostal dysostosis 37
            Spondylocostal Dysostosis, Autosomal Recessive 8
              spondylocostal dysostosis 1 4
              spondylocostal dysostosis 2 5
              spondylocostal dysostosis 3 2
              spondylocostal dysostosis 4 1
              spondylocostal dysostosis 6 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                spondylocostal dysostosis 37
                  Spondylocostal Dysostosis, Autosomal Recessive 8
                    spondylocostal dysostosis 1 4
                    spondylocostal dysostosis 2 5
                    spondylocostal dysostosis 3 2
                    spondylocostal dysostosis 4 1
                    spondylocostal dysostosis 6 1
paths to the root