<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0700240"?>
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     xml:base="http://www.w3.org/2002/07/owl"
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     xmlns:owl="http://www.w3.org/2002/07/owl#"
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     xmlns:ns4="http://purl.obolibrary.org/obo/"
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     xmlns:dc="http://purl.org/dc/elements/1.1/">
    


    <!-- 
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    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000233"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    


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    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


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    <!-- http://identifiers.org/hgnc/12703 -->

    <Class rdf:about="http://identifiers.org/hgnc/12703">
        <rdfs:label>BEST1</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020248 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020248">
        <rdfs:label>vitreoretinal degeneration</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0700240 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0700240">
        <rdfs:label>BEST1-related vitreoretinochoroidopathy</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020248"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/12703"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6562</ns4:IAO_0000233>
        <oboInOwl:hasExactSynonym>ADVRIC</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>GARD:0026389</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0700240</oboInOwl:id>
        <rdfs:comment>This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/)</rdfs:comment>
        <oboInOwl:hasExactSynonym>BEST1-related vitreoretinochoroidopathy</oboInOwl:hasExactSynonym>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
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