# familial hypercholesterolemia

> familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease

**Wikidata**: [Q2711291](https://www.wikidata.org/wiki/Q2711291)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Familial_hypercholesterolemia)  
**Source**: https://4ort.xyz/entity/familial-hypercholesterolemia


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Human Phenotype Ontology release 2018-03-08
4. Freebase Data Dumps. 2013
5. [Inxight: Drugs Database](https://drugs.ncats.io/drug/1XU104G55N)
6. [Inxight: Drugs Database](https://drugs.ncats.io/drug/413KH5ZJ73)
7. [Inxight: Drugs Database](https://drugs.ncats.io/drug/EOR26LQQ24)
8. NDF-RT
9. Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000130164/EFO_0004911)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000084674/EFO_0004911)
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000169174/EFO_0004911)
13. BabelNet
14. [Identifiers.org](https://registry.identifiers.org/registry/doid)
15. Quora
16. KBpedia
17. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)