# pontocerebellar hypoplasia type 2E

> human disease

**Wikidata**: [Q18966153](https://www.wikidata.org/wiki/Q18966153)  
**Source**: https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2e


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)