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        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/12703 -->

    <Class rdf:about="http://identifiers.org/hgnc/12703">
        <rdfs:label>BEST1</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0000390 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000390">
        <rdfs:label>vitelliform macular dystrophy</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0007931 -->

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        <rdfs:label>vitelliform macular dystrophy 2</rdfs:label>
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        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6562</ns4:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/macular_dystrophy_vitelliform_2</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>BVMD</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>macular dystrophy, vitelliform, type 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>vitelliform macular dystrophy, juvenile-onset</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NORD:853</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>early-onset vitelliform macular dystrophy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>macular degeneration, polymorphic vitelline</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.</ns4:IAO_0000115>
        <oboInOwl:hasNarrowSynonym>vitelliform macular dystrophy, type 2</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasDbXref>Orphanet:1243</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>macular Degeneration, polymorphic vitelline</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C2745945</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>vitelliform macular dystrophy type 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Best Vitelliform Macular Dystrophy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Best macular dystrophy</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasExactSynonym>polymorphic vitelline macular degeneration</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0007931</oboInOwl:id>
        <oboInOwl:hasDbXref>GARD:0000182</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>OMIM:153700</oboInOwl:hasDbXref>
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        <oboInOwl:hasExactSynonym>BEST1 retinopathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>macular dystrophy, vitelliform, 2</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>VMD2</oboInOwl:hasRelatedSynonym>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0700238 -->

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