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familial hypercholesterolemia

^ http://www.ebi.ac.uk/efo/EFO_0004911


Familial hypercholesterolaemia is an autosomal inherited disorder characterized by markedly elevated LDL-cholesterol levels and an increased risk of premature atherosclerotic cardiovascular disease [ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern ]

Synonyms: Hyperlipoproteinemia Type II

Term info

OMIM definition citation

OMIM:144010, OMIM:143890, OMIM:603776, OMIM:144400

SNOMEDCT definition citation

SNOMEDCT:398036000

comment

PMID:26076948

gwas trait

true

term editor

Laura Huerta