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hypercholesterolemia, autosomal dominant, type B

Disease Summary
Associated Targets (5)
Tchem

2

Tbio

2

Tclin

1


Uniprot Description Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors.
Mondo Term and Equivalent IDs
MONDO:0007751:  hypercholesterolemia, autosomal dominant, type B
SCTID:238081000: