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    <!-- http://purl.obolibrary.org/obo/NCIT_C123416 -->

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        <rdfs:label>Hyperlipoproteinemia, Type IIa</rdfs:label>
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        <ns3:IAO_0000115>An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.</ns3:IAO_0000115>
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