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ONTOLOGY REPORT - ANNOTATIONS


Term:KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
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Accession:DOID:9000738 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
 primary_id: OMIM:616549
 alt_id: RDO:9001622
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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 14924
    syndrome 4713
      Klippel-Feil syndrome 5
        KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        peripheral nervous system disease 2004
          neuropathy 1820
            neuromuscular disease 1392
              muscular disease 887
                muscle tissue disease 613
                  myopathy 494
                    congenital structural myopathy 129
                      nemaline myopathy 56
                        KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 1
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