# hypercholesterolemia, autosomal dominant, type b

> human disease

**Wikidata**: [Q55950229](https://www.wikidata.org/wiki/Q55950229)  
**Source**: https://4ort.xyz/entity/hypercholesterolemia-autosomal-dominant-type-b


## References

1. Monarch Disease Ontology release 2018-06-29
2. Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia
3. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/1c26b83b-409e-47c7-9c53-6ca79472d6fc--2018-11-14T17:00:00)
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/1c26b83b-409e-47c7-9c53-6ca79472d6fc--2018-11-14T18:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c26b83b-409e-47c7-9c53-6ca79472d6fc-2018-11-14T180000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000084674/MONDO_0007751)