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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 6
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Accession:DOID:0112360 term browser browse the term
Definition:A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. (DO)
Synonyms:exact_synonym: SCDO6;   spondylocostal dysostosis 6, autosomal recessive
 primary_id: OMIM:616566
 alt_id: DOID:9007515



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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      bone development disease 2280
        dysostosis 576
          spondylocostal dysostosis 37
            Spondylocostal Dysostosis, Autosomal Recessive 8
              spondylocostal dysostosis 6 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      musculoskeletal system disease 8247
        connective tissue disease 5729
          bone disease 4242
            bone development disease 2280
              dysostosis 576
                spondylocostal dysostosis 37
                  Spondylocostal Dysostosis, Autosomal Recessive 8
                    spondylocostal dysostosis 6 1
paths to the root