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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 4
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Accession:DOID:0112364 term browser browse the term
Definition:A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: SCDO4;   spondylocostal dysostosis 4, autosomal recessive
 primary_id: OMIM:613686
 alt_id: DOID:9008362


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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      bone development disease 2304
        dysostosis 577
          spondylocostal dysostosis 37
            Spondylocostal Dysostosis, Autosomal Recessive 8
              spondylocostal dysostosis 4 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      musculoskeletal system disease 8276
        connective tissue disease 5761
          bone disease 4272
            bone development disease 2304
              dysostosis 577
                spondylocostal dysostosis 37
                  Spondylocostal Dysostosis, Autosomal Recessive 8
                    spondylocostal dysostosis 4 1
paths to the root