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ONTOLOGY REPORT - ANNOTATIONS


Term:Klippel-Feil syndrome
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Accession:DOID:10426 term browser browse the term
Definition:A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
Synonyms:exact_synonym: Cervical Fusion Syndrome;   Dystrophia Brevicollis Congenita;   Dystrophia Brevicollis Congenitas;   Klippel-Feil Sequence;   Klippel-Feil and Turner syndrome;   Klippel-Feil deformity, deafness and facial asymmetry;   Vertebral Cervical Fusion Syndrome;   autosomal dominant Klippel-Feil syndrome;   congenital dystrophia brevicollis;   congenital synostosis of cervical vertebrae
 primary_id: MESH:D007714
 alt_id: RDO:0002365
 xref: GARD:10280;   ORDO:2345
For additional species annotation, visit the Alliance of Genome Resources.


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Klippel-Feil syndrome 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:13592920
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:11554173
RGD:8554872
G Meox1 mesenchyme homeobox 1 JBrowse link 10 89,797,011 89,817,009 RGD:13592920
G Myo18b myosin XVIIIb JBrowse link 12 49,761,100 49,979,745 RGD:8554872
Klippel Feil Syndrome Dominant Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf6 growth differentiation factor 6 JBrowse link 5 23,056,345 23,072,666 RGD:7240710
RGD:8554872
Klippel Feil Syndrome Recessive Type 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
Klippel-Feil Syndrome 3, Autosomal Dominant 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
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo18b myosin XVIIIb JBrowse link 12 49,761,100 49,979,745 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    physical disorder 740
      Klippel-Feil syndrome 5
        Calabro Syndrome 0
        KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 1
        Klippel Feil Syndrome Dominant Type + 2
        Klippel Feil Syndrome Recessive Type 2
        Segmentation Syndrome 1 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      musculoskeletal system disease 3973
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              dysostosis 233
                Klippel-Feil syndrome 5
                  Calabro Syndrome 0
                  KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 1
                  Klippel Feil Syndrome Dominant Type + 2
                  Klippel Feil Syndrome Recessive Type 2
                  Segmentation Syndrome 1 0
paths to the root