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loading...| Preferred Name |
Freeman-Sheldon syndrome |
| Synonyms |
whistling face-windmill vane hand syndrome |
| Definitions |
A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111604 |
| database_cross_reference |
NCI:C98931 SNOMEDCT_US_2021_09_01:52616002 ORDO:2053 ICD10CM:Q87.0 OMIM:193700 MESH:C535483 |
| definition |
A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. |
| has exact synonym |
whistling face-windmill vane hand syndrome craniocarpotarsal dystrophy whistling face syndrome craniocarpotarsal dysplasia |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111604 |
| in_subset | |
| label |
Freeman-Sheldon syndrome |
| notation |
DOID:0111604 |
| prefLabel |
Freeman-Sheldon syndrome |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C535483 | Medical Subject Headings | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98931 | National Cancer Institute Thesaurus | LOOM |