# hypercholesterolemia, autosomal dominant, 3

> human disease

**Wikidata**: [Q55999659](https://www.wikidata.org/wiki/Q55999659)  
**Source**: https://4ort.xyz/entity/hypercholesterolemia-autosomal-dominant-3


## References

1. Monarch Disease Ontology release 2018-06-29
2. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
3. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/bf710ddc-c189-419f-ab70-25300b067db2--2018-11-14T17:00:00)
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf710ddc-c189-419f-ab70-25300b067db2-2018-11-14T170000.000Z)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000169174/MONDO_0011369)