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Disease Ontology Browser
Freeman-Sheldon syndrome (DOID:0111604)
Alliance: disease page
Synonyms: craniocarpotarsal dysplasia; craniocarpotarsal dystrophy; whistling face syndrome; whistling face-windmill vane hand syndrome
Alt IDs: OMIM:193700, ICD10CM:Q87.0, MESH:C535483, NCI:C98931, ORDO:2053
Definition: A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory