Terminology Service for NFDI4Health
familial hypercholesterolemia
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http://www.ebi.ac.uk/efo/EFO_0004911
An inheritable form of hyperlipidemia, in which there are excess lipids in the blood. [ ]
Term info
Label
familial hypercholesterolemia
Synonyms
- Fredrickson type IIa hyperlipoproteinemia
- Fredrickson type IIa lipidaemia
- Hyperlipoproteinemia Type II
- familial hyperbetalipoproteinaemia
- familial hypercholesteremia
- familial hypercholesterolaemia
- familial hypercholesterolemia
- hyperbetalipoproteinemia
- hyperlipoproteinemia type II
comment
PMID:26076948, Editor note: TODO check xrefs
exactMatch
http://purl.obolibrary.org/obo/NCIT_C34704, https://omim.org/phenotypicSeries/PS143890, http://linkedlifedata.com/resource/umls/id/CN118841, http://purl.obolibrary.org/obo/DOID_13810, http://identifiers.org/snomedct/190773008
gwas trait
true
has related synonym
type II hyperlipidemia
id
EFO:0004911
term editor
Laura Huerta
Term relations
Subclass of:
- hyperlipoproteinemia
- familial hyperlipidemia
- participates_in some (
cholesterol homeostasis and
has component some abnormal) and has_participant some cholesterol