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ONTOLOGY REPORT - ANNOTATIONS


Term:Freeman-Sheldon syndrome
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Accession:DOID:0111604 term browser browse the term
Definition:A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. (DO)
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: DOID:9003046
 xref: ORDO:2053
For additional species annotation, visit the Alliance of Genome Resources.


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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:8554872
RGD:11554173
distal arthrogryposis type 2A 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      Freeman-Sheldon syndrome 1
        autosomal recessive Whistling face syndrome 0
        distal arthrogryposis type 2A 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      musculoskeletal system disease 5304
        connective tissue disease 3934
          bone disease 3431
            bone development disease 1243
              dysostosis 318
                synostosis 211
                  craniosynostosis 173
                    Crouzon syndrome 24
                      Freeman-Sheldon syndrome 1
                        autosomal recessive Whistling face syndrome 0
                        distal arthrogryposis type 2A 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.