# cholesterol ester storage disease

> lysosomal storage disease

**Wikidata**: [Q2622714](https://www.wikidata.org/wiki/Q2622714)  
**Source**: https://4ort.xyz/entity/cholesterol-ester-storage-disease


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000107798/MONDO_0019149)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)