loading...| Preferred Name | Schwartz-Jampel syndrome | |
| Synonyms |
Burton syndrome SJS Dysostosis enchondralis metaepiphysaria, Catel-Hempel type Osteo-chondro-muscular dystrophy Catel-Hempel syndrome Aberfeld syndrome Burton disease SJS1 Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Burton skeletal dysplasia Schwartz-Jampel-Aberfeld syndrome Schwartz-Jampel syndrome type 1 Myotonic chondrodystrophy |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_215 |
|
| ageOfOnset |
Neonatal/infancy |
|
| altLabel |
Burton syndrome SJS Dysostosis enchondralis metaepiphysaria, Catel-Hempel type Osteo-chondro-muscular dystrophy Catel-Hempel syndrome Aberfeld syndrome Burton disease SJS1 Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Burton skeletal dysplasia Schwartz-Jampel-Aberfeld syndrome Schwartz-Jampel syndrome type 1 Myotonic chondrodystrophy |
|
| id_Medline | ||
| id_MIM |
255800 |
|
| id_OMS |
G71.1 |
|
| id_Orpha |
800 |
|
| id_SNOMEDCT |
29145002 |
|
| id_UMLS |
C0036391 |
|
| inheritance |
Autosomal recessive |
|
| patType |
disease |
|
| prefixIRI |
hrdo:pat_id_215 |
|
| prefLabel |
Schwartz-Jampel syndrome |
|
| prevalence |
<1 / 1 000 000 |
|
| subClassOf |