DISEASES

Disease-gene associations mined from literature

Human genes for Schwartz-Jampel syndrome 1

Schwartz-Jampel syndrome 1 [DOID:0090005]

A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.

Synonyms:  Schwartz-Jampel syndrome 1,  DOID:0090005,  SchwartzJampel syndrome 1,  Aberfeld syndrome,  Burton skeletal dysplasia ...