# hereditary spastic paraplegia 17

> hereditary spastic paraplegia that has material basis in mutation in the BSCL2 gene on chromosome 11q12

**Wikidata**: [Q32142660](https://www.wikidata.org/wiki/Q32142660)  
**Source**: https://4ort.xyz/entity/hereditary-spastic-paraplegia-17


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000168000/MONDO_0010043)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000168000/Orphanet_100998)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)