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ONTOLOGY REPORT - ANNOTATIONS


Term:Klippel-Feil syndrome 3
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Accession:DOID:0080591 term browser browse the term
Definition:A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: KFS3;   Klippel-Feil syndrome 3, autosomal dominant
 primary_id: OMIM:613702
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Klippel-Feil syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      Klippel-Feil syndrome 5
        Klippel-Feil syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      musculoskeletal system disease 4326
        connective tissue disease 2796
          bone disease 2247
            bone development disease 1008
              dysostosis 309
                Klippel-Feil syndrome 5
                  Klippel-Feil syndrome 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.