# pontocerebellar hypoplasia type 6

> human disease

**Wikidata**: [Q18966158](https://www.wikidata.org/wiki/Q18966158)  
**Source**: https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-6


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000146282/MONDO_0012683)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)