|OBO ID: DOID:0090005|
|Term Name:||Schwartz-Jampel syndrome 1||Search Ontology:|
|Definition:||A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. (3)|
|Ontology:||Human Disease (DOID:0090005)|
|is a type of:||
OTHER Schwartz-Jampel syndrome 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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