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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease aortic valve insufficiency
Comorbidity C0020443|hypercholesterolemia
Sentences 2
PubMedID- 25444533 Tuberous xanthoma as a presenting feature of familial homozygous hypercholesterolemia with aortic regurgitation.
PubMedID- 23381364 A 46-year-old woman with homozygous familial hypercholesterolemia was referred due to aortic regurgitation.

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