Search Ontology:
Human Disease
Freeman-Sheldon syndrome
- Term ID
- DOID:0111604
- Synonyms
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- craniocarpotarsal dysplasia
- craniocarpotarsal dystrophy
- whistling face syndrome
- whistling face-windmill vane hand syndrome
- Definition
- A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. (3)
- References
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- ICD10CM:Q87.0
- MESH:C535483
- MIM:193700
- NCI:C98931
- ORDO:2053
- SNOMEDCT_US_2021_09_01:52616002
- Ontology
- Human Disease ( DOID:0111604 )
- is a type of
-
- has subtype
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Other Pages
Genes Involved
Zebrafish Models