Mondo Description Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.
Uniprot Description Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses.
Disease Ontology Description An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
Mondo Term and Equivalent IDs
MONDO:0009717: Schwartz-Jampel syndrome