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DOID:0090005 - Schwartz-Jampel syndrome 1
Disease Ontology Definition:A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
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
Echinobase Genes
:
hspg2
| MIM:255800 - schwartz-jampel syndrome, type 1; sjs1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)