Term Name:	Schwartz-Jampel syndrome 1
Synonyms:	Aberfeld syndrome, Burton skeletal dysplasia, Burton syndrome, Catel-Hempel syndrome, Catel-Hempel type dysostosis enchondralis metaepiphysaria, myotonic chondrodystrophy, myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, osteochondromuscular dystrophy, Schwartz-Jampel syndrome type 1, Schwartz-Jampel-Aberfeld syndrome
Definition:	A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
Ontology:	Human Disease [DOID:0090005]   ( DOID:0090005 )