# hereditary spastic paraplegia 18

> gene (8p11.2) encoding the protein, Erlin-2.

**Wikidata**: [Q32142675](https://www.wikidata.org/wiki/Q32142675)  
**Source**: https://4ort.xyz/entity/hereditary-spastic-paraplegia-18


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147475/MONDO_0012639)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147475/Orphanet_209951)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)