FAMILIAL HYPERCHOLESTEROLEMIA

Pronunciation (US):

(GB):

 Dictionary entry overview: What does familial hypercholesterolemia mean? 

• FAMILIAL HYPERCHOLESTEROLEMIA (noun)
  The noun FAMILIAL HYPERCHOLESTEROLEMIA has 1 sense:

1. congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis

  Familiarity information: FAMILIAL HYPERCHOLESTEROLEMIA used as a noun is very rare.

 Dictionary entry details 

• FAMILIAL HYPERCHOLESTEROLEMIA (noun)

Sense 1

Meaning:

Congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis

Classified under:

Nouns denoting stable states of affairs

Hypernyms ("familial hypercholesterolemia" is a kind of...):

monogenic disease; monogenic disorder (an inherited disease controlled by a single pair of genes)

hypercholesteremia; hypercholesterolemia (the presence of an abnormal amount of cholesterol in the cells and plasma of the blood; associated with the risk of atherosclerosis)

 Context examples 

Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia.

(Low Density Lipoprotein Receptor, NCI Thesaurus/LocusLink)

Mutations in the gene result in autosomal dominant disorder, familial hypercholesterolemia.

(LDLR wt Allele, NCI Thesaurus)