<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0013449"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://purl.obolibrary.org/obo/mondo#"
     xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#"
     xmlns:owl="http://www.w3.org/2002/07/owl#"
     xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"
     xmlns:xsd="http://www.w3.org/2001/XMLSchema#"
     xmlns:skos="http://www.w3.org/2004/02/skos/core#"
     xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ns4="http://purl.obolibrary.org/obo/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <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/mondo#curated_content_resource"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Datatypes
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- 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>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Classes
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://identifiers.org/hgnc/2383 -->

    <Class rdf:about="http://identifiers.org/hgnc/2383">
        <rdfs:label>CRX</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0013449 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0013449">
        <rdfs:label>Leber congenital amaurosis 7</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0018998"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                        <someValuesFrom rdf:resource="http://identifiers.org/hgnc/2383"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018998"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_1040064"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/10880/leber-congenital-amaurosis-7</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/leber_congenital_amaurosis_7</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>UMLS:C3151192</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:462542</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>LCA7</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Leber congenital amaurosis caused by mutation in CRX</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0010880</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:613829</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Leber congenital amaurosis 7</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>CRX Leber congenital amaurosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Leber congenital amaurosis type 7</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0013449</oboInOwl:id>
        <oboInOwl:hasDbXref>DOID:0110333</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene.</ns4:IAO_0000115>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/462542"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C3151192"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0110333"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/613829"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018998 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018998">
        <rdfs:label>Leber congenital amaurosis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_1040064 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_1040064">
        <rdfs:label>CRX-related retinopathy</rdfs:label>
    </Class>
</rdf:RDF>



<!-- Generated by the OWL API (version 3.2.4.1806) http://owlapi.sourceforge.net -->



