<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0100316"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns6="http://purl.obolibrary.org/obo/"
     xmlns:mondo="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:dcterms="http://purl.org/dc/terms/"
     xmlns:skos="http://www.w3.org/2004/02/skos/core#"
     xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     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#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000233"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#doid_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#omim_susceptibility"/>
    <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.org/dc/terms/creator"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#closeMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#prototype_pattern"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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/6294 -->

    <Class rdf:about="http://identifiers.org/hgnc/6294">
        <rdfs:label>KCNQ1</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019171 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019171">
        <rdfs:label>familial long QT syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100316 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100316">
        <rdfs:label>long QT syndrome 1</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019171"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/6294"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns6:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9285</ns6:IAO_0000233>
        <oboInOwl:hasExactSynonym>long QT syndrome type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0026140</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0110644</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:20852007</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>LQT1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>long QT syndrome 1/2, digenic</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NCIT:C85049</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>ventricular fibrillation with prolonged QT interval</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MedDRA:10039211</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>long QT syndrome 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>long QT syndrome 1, acquired, susceptibility to</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0100316</oboInOwl:id>
        <oboInOwl:hasDbXref>MEDGEN:1641146</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C4551647</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:192500</oboInOwl:hasDbXref>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10039211"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1641146"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/20852007"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4551647"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0110644"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C85049"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#doid_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#omim_susceptibility"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#prototype_pattern"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/192500"/>
        <dcterms:creator rdf:resource="https://orcid.org/0000-0001-5208-3432"/>
    </Class>
</rdf:RDF>



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



