# Niemann-Pick disease, type C1

> Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein

**Wikidata**: [Q50349678](https://www.wikidata.org/wiki/Q50349678)  
**Source**: https://4ort.xyz/entity/niemann-pick-disease-type-c1


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8459873-2577-43ff-966c-e5180683d4f4-2022-03-01T170000.000Z)
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)