# Niemann–Pick disease, type C

> autosomal recessive lipid storage disorder that is characterized by accumulation of cholesterol and sphingomyelins in cells of the viscera and the central nervous system

**Wikidata**: [Q2067267](https://www.wikidata.org/wiki/Q2067267)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Niemann–Pick_disease_type_C)  
**Source**: https://4ort.xyz/entity/niemann-pick-disease-type-c


## References

1. Monarch Disease Ontology release 2018-06-29
2. Freebase Data Dumps. 2013
3. [Source](https://www.ncbi.nlm.nih.gov/books/NBK1296/)
4. Klinická neurologie část speciální
5. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
6. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000141458/MONDO_0018982)
8. Identification of HE1 as the second gene of Niemann-Pick C disease
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000119655/MONDO_0018982)
10. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)