ONTOLOGY REPORT - ANNOTATIONS


Term:Freeman-Sheldon Syndrome
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Accession:DOID:9003046 term browser browse the term
Synonyms:exact_synonym: Craniocarpotarsal dystrophy;   DA2A;   Distal Arthrogryposis, Type 2A;   FSS;   Whistling Face Syndrome;   craniocarpotarsal dysplasia;   whistling face-windmill vane hand syndrome
 primary_id: MESH:C535483
 alt_id: OMIM:193700;   RDO:0000619
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Freeman-Sheldon Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Freeman-Sheldon Syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    Crouzon syndrome 23
                      Freeman-Sheldon Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.