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    <!-- http://purl.obolibrary.org/obo/MONDO_0007194 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007194">
        <rdfs:label>familial bicuspid aortic valve</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0013902 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0013902">
        <rdfs:label>aortic valve disease 2</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0007194"/>
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        <oboInOwl:hasDbXref>MEDGEN:762200</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0013902</oboInOwl:id>
        <oboInOwl:hasDbXref>UMLS:C3542024</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>aortic valve disease type 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:614823</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>AOVD2</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>DOID:0080334</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>aortic valve disease 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0018471</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>aortic valve disease caused by mutation in SMAD6</oboInOwl:hasExactSynonym>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0700324 -->

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        <rdfs:label>SMAD6-related disease</rdfs:label>
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