loading...| Preferred Name |
Freeman-Sheldon syndrome |
|
| Synonyms |
craniocarpotarsal dysplasia |
|
| 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 ORDO:2053 OMIM:193700 ICD10CM:Q87.0 SNOMEDCT_US_2021_09_01:52616002 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 |
craniocarpotarsal dysplasia whistling face syndrome craniocarpotarsal dystrophy whistling face-windmill vane hand syndrome |
|
| has_obo_namespace |
disease_ontology |
|
| IAO_0000115 |
A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. |
|
| id |
DOID:0111604 |
|
| label |
Freeman-Sheldon syndrome |
|
| notation |
DOID:0111604 |
|
| prefLabel |
Freeman-Sheldon syndrome |
|
| subClassOf |