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DO Term : Freeman-Sheldon syndrome [DOID:0111604] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
ICD10CM:Q87.0,
craniocarpotarsal dystrophy,
whistling face-windmill vane hand syndrome,
whistling face syndrome,
craniocarpotarsal dysplasia,
SNOMEDCT_US_2021_09_01:52616002,
193700,
MESH:C535483,
ORDO:2053,
OMIM:193700,
NCI:C98931

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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