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ONTOLOGY REPORT - ANNOTATIONS


Term:Klippel-Feil syndrome 2
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Accession:DOID:0080590 term browser browse the term
Definition:A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: KFS2;   KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE
 primary_id: OMIM:214300
 alt_id: DOID:9001897
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Klippel-Feil syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Meox1 mesenchyme homeobox 1 JBrowse link NW_004955451 17,013,180 17,022,131 RGD:7240710
G Ripply2 ripply transcriptional repressor 2 JBrowse link NW_004955411 11,418,744 11,422,766 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11714
    syndrome 5182
      Klippel-Feil syndrome 6
        Klippel-Feil syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 11714
    disease of anatomical entity 11292
      musculoskeletal system disease 4716
        connective tissue disease 3303
          bone disease 2847
            bone development disease 1177
              dysostosis 299
                Klippel-Feil syndrome 6
                  Klippel-Feil syndrome 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.