Freeman-Sheldon syndrome

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Summary

Literature (0)

DOID:0111604 - Freeman-Sheldon syndrome

Disease Ontology Definition:A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.

Synonyms: craniocarpotarsal dysplasia, craniocarpotarsal dystrophy, whistling face syndrome, whistling face-windmill vane hand syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: myh3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): distal arthrogryposis (is_a)