# pontocerebellar hypoplasia type 10

> human disease

**Wikidata**: [Q18966164](https://www.wikidata.org/wiki/Q18966164)  
**Source**: https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-10


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
5. Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000172409/MONDO_0014349)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023