# autosomal recessive spinocerebellar ataxia 2

> human disease

**Wikidata**: [Q21124571](https://www.wikidata.org/wiki/Q21124571)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-spinocerebellar-ataxia-2


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000165688/MONDO_0008943)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000165688/Orphanet_1170)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)