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LCAT deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.
Mondo Term and Equivalent IDs
MONDO:0018999:  LCAT deficiency
Orphanet:650: 
SCTID:49227001: