Search Ontology:
Human Disease

Schwartz-Jampel syndrome 1

Term ID
DOID:0090005
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. (3)
References
Ontology
Human Disease   ( DOID:0090005 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models