# Schwartz-Jampel syndrome 1

> autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36

**Wikidata**: [Q9390341](https://www.wikidata.org/wiki/Q9390341)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Schwartz–Jampel_syndrome)  
**Source**: https://4ort.xyz/entity/schwartz-jampel-syndrome-1


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. UniProt
5. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000142798/MONDO_0009717)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)