# pontocerebellar hypoplasia type 9

> human disease

**Wikidata**: [Q18966162](https://www.wikidata.org/wiki/Q18966162)  
**Source**: https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-9


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000116337/MONDO_0014351)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)