# pseudo-Hurler polydystrophy

> Human disease

**Wikidata**: [Q7254411](https://www.wikidata.org/wiki/Q7254411)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pseudo-Hurler_polydystrophy)  
**Source**: https://4ort.xyz/entity/pseudo-hurler-polydystrophy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy
5. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)
6. BabelNet
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)