<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0012627"?>
<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/"
     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:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/mondo#">
    


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

    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#omim_susceptibility"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#excluded_subClassOf"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#predisposition"/>
    <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>
    


    <!-- http://purl.obolibrary.org/obo/mondo#predisposes_towards -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/mondo#predisposes_towards">
        <rdfs:label>predisposes towards</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/4075 -->

    <Class rdf:about="http://identifiers.org/hgnc/4075">
        <rdfs:label>GABRA1</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005579 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005579">
        <rdfs:label>idiopathic generalized epilepsy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009696 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009696">
        <rdfs:label>juvenile myoclonic epilepsy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010826 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010826">
        <rdfs:label>childhood absence epilepsy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0012627 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0012627">
        <rdfs:label>epilepsy, idiopathic generalized, susceptibility to, 13</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020573"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#predisposes_towards"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0009696"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#predisposes_towards"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0010826"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/4075"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/epilepsy_idiopathic_generalized_13</ns3:curated_content_resource>
        <oboInOwl:hasDbXref>UMLS:C4013473</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>susceptibility to idiopathic generalised epilepsy 13</oboInOwl:hasExactSynonym>
        <ns5:IAO_0000115>An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene.</ns5:IAO_0000115>
        <oboInOwl:hasExactSynonym>susceptibility to idiopathic generalized epilepsy 13</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>GABRA1 juvenile myoclonic epilepsy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:611136</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>EIG13</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:861910</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C567002</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>epilepsy, idiopathic generalized, susceptibility to, 13</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0111314</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0012627</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>juvenile myoclonic epilepsy caused by mutation in GABRA1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>epilepsy, idiopathic generalized, susceptibility to, type 13</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/861910"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C567002"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4013473"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005579"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#omim_susceptibility"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#predisposition"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/611136"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020573 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020573">
        <rdfs:label>inherited disease susceptibility</rdfs:label>
    </Class>
</rdf:RDF>



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



