# spastic ataxia 5

> human disease

**Wikidata**: [Q21097760](https://www.wikidata.org/wiki/Q21097760)  
**Source**: https://4ort.xyz/entity/spastic-ataxia-5


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000141385/MONDO_0013776)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000141385/Orphanet_313772)
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)