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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
For additional species annotation, visit the Alliance of Genome Resources.

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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 10 89,797,011 89,817,009 RGD:7240710
RGD:8554872
G Ripply2 ripply transcriptional repressor 2 JBrowse link 8 94,676,579 94,691,125 RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      Klippel-Feil syndrome 5
        Klippel-Feil syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      musculoskeletal system disease 4326
        connective tissue disease 2797
          bone disease 2248
            bone development disease 1009
              dysostosis 311
                Klippel-Feil syndrome 5
                  Klippel-Feil syndrome 2 2
paths to the root

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