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Summary Literature (0)
DOID:0090005 - Schwartz-Jampel syndrome 1

Disease Ontology Definition:An autosomal recessive disease 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, Schwartz-Jampel syndrome type 1, Schwartz-Jampel-Aberfeld syndrome, myotonic chondrodystrophy, myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, osteochondromuscular dystrophy

Echinobase Genes : hspg2

OMIM:255800 - schwartz-jampel syndrome, type 1; sjs1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a)