loading...| Preferred Name |
Freeman-Sheldon syndrome |
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| Synonyms |
Craniocarpotarsal dysplasia Distal arthrogryposis type 2A Craniocarpotarsal dystrophy Whistling face syndrome craniocarpotarsal dysplasia craniocarpotarsal dystrophy windmill-vane-hand syndrome whistling face-windmill vane hand syndrome Freeman Sheldon Syndrome distal arthrogryposis type 2A Freeman Sheldon syndrome arthrogryposis, distal, type 2A (Freeman-Sheldon) whistling-face syndrome cranio-carpo-tarsal syndrome Freeman-Sheldon syndrome whistling face syndrome FSS arthrogryposis distal type 2A arthrogryposis, distal, type 2A DA2A |
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| Definitions |
Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis. A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_2053 |
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| database_cross_reference |
OMIM:193700 UMLS:C0265224 OMIM:277720 ICD10:Q87.0 MedDRA:10073655 MeSH:C535483 GARD:6466 DOID:0111604 NCIT:C98931 SCTID:52616002 MONDO:0008675 MESH:C535483 DOID:0111605 NORD:1161 |
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| definition |
Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis. A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis. |
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| definition_citation |
orphanet |
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| exactMatch |
http://identifiers.org/snomedct/52616002 http://purl.obolibrary.org/obo/Orphanet_2053 http://purl.obolibrary.org/obo/NCIT_C98931 http://purl.obolibrary.org/obo/DOID_0111605 http://purl.obolibrary.org/obo/DOID_0111604 |
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| has_exact_synonym |
Craniocarpotarsal dysplasia Distal arthrogryposis type 2A Craniocarpotarsal dystrophy Whistling face syndrome craniocarpotarsal dysplasia craniocarpotarsal dystrophy windmill-vane-hand syndrome whistling face-windmill vane hand syndrome Freeman Sheldon Syndrome distal arthrogryposis type 2A Freeman Sheldon syndrome arthrogryposis, distal, type 2A (Freeman-Sheldon) whistling-face syndrome cranio-carpo-tarsal syndrome Freeman-Sheldon syndrome whistling face syndrome |
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| has_related_synonym |
FSS arthrogryposis distal type 2A arthrogryposis, distal, type 2A DA2A |
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| IAO_0000233 | ||
| id |
Orphanet:2053 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
Freeman-Sheldon syndrome |
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| notation |
Orphanet:2053 |
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| prefLabel |
Freeman-Sheldon syndrome |
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| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003857 http://purl.obolibrary.org/obo/MONDO_0015161 http://www.orpha.net/ORDO/Orphanet_404577 http://purl.obolibrary.org/obo/MONDO_0019942 |