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apolipoprotein A-I deficiency

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Mondo Description A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
Mondo Term and Equivalent IDs
MONDO:0100189:  apolipoprotein A-I deficiency
Orphanet:425: