# Niemann-Pick disease, type C2

> Niemann-Pick disease that has material basis in an autosomal recessive mutation of NPC2 on chromosome 14q24.3

**Wikidata**: [Q50349679](https://www.wikidata.org/wiki/Q50349679)  
**Source**: https://4ort.xyz/entity/niemann-pick-disease-type-c2


## 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_82bb23dd-d3bc-478d-bb3d-d1928e810029-2022-04-06T130135.185Z)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)