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Term:Klippel-Feil syndrome 4
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Accession:DOID:0080592 term browser browse the term
Definition:An autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. (OMIM)
Synonyms:exact_synonym: KFS4;   Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism;   Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism
 primary_id: OMIM:616549
 xref: ORDO:447974
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Klippel-Feil syndrome 4 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      Klippel-Feil syndrome 5
        Klippel-Feil syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1559
              muscular disease 1002
                muscle tissue disease 695
                  myopathy 559
                    congenital structural myopathy 130
                      nemaline myopathy 56
                        Klippel-Feil syndrome 4 1
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