obsolete_Schwartz-Jampel syndrome true UMLS:C0036391 Gautier Koscielny Osteochondromuscular dystrophy Burton disease Replaced with Mondo term. Catel-Hempel syndrome Myotonic chondrodystrophy Aberfeld syndrome MESH:D010009 Burton syndrome Schwartz-Jampel-Aberfeld syndrome Dysostosis enchondralis metaepiphysaria, Catel-Hempel type http://purl.obolibrary.org/obo/MONDO_0009717 Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies OMIM:255800 3.41.0 Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan,[1] and causing osteochondrodysplasia associated with myotonia. [Wikipedia:Schwartz–Jampel_syndrome] SJS Schwartz-Jampel syndrome type 1 Burton skeletal dysplasia ICD10:G71.1 SJS1