OBO ID: DOID:0090005
Term Name: Schwartz-Jampel syndrome 1 Search Ontology:
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)
OTHER Schwartz-Jampel syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HSPG2 Schwartz-Jampel syndrome, type 1 255800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None