| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (Human Disease Ontology, DOID_13810) |
| External Link | http://www.omim.org/entry/143890 |
| Similar Terms | |
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2 genes associated with the Familial hypercholesterolemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
