# hereditary spastic paraplegia 48

> hereditary spastic paraplegia that has material basis in mutation in the AP5Z1 gene on chromosome 7p22.1

**Wikidata**: [Q32143107](https://www.wikidata.org/wiki/Q32143107)  
**Source**: https://4ort.xyz/entity/hereditary-spastic-paraplegia-48


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000242802/Orphanet_306511)
6. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)