Schwartz-Jampel syndrome 1

Summary

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-Aberfeld syndrome, Schwartz-Jampel syndrome type 1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hspg2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009717 - Schwartz-Jampel syndrome

MONDO:0009717 - Schwartz-Jampel syndrome

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)