<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EPIO?iri=http://purl.obolibrary.org/obo/NCIT_C36327"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     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:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ns2="http://purl.obolibrary.org/obo/"
     xmlns:ns4="https://bio.scai.fraunhofer.de/ontology/epilepsy#"
     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/NCIT_P366"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000412"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="https://bio.scai.fraunhofer.de/ontology/epilepsy#fromEpSO"/>
    <AnnotationProperty rdf:about="https://bio.scai.fraunhofer.de/ontology/epilepsy#fromILAE"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/NCIT_P106"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/NCIT_NHC0"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDefinition"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/NCIT_P108"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/NCIT_P207"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/NCIT_C36327 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/NCIT_C36327">
        <rdfs:label>Gene Abnormality</rdfs:label>
        <rdfs:subClassOf rdf:resource="https://bio.scai.fraunhofer.de/ontology/epilepsy#genetic_etiology"/>
        <ns4:fromILAE rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</ns4:fromILAE>
        <oboInOwl:hasExactSynonym>Genetic Mutation</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDefinition>Current knowledge regarding the contribution of gene abnormalities to epilepsy derives from specific molecular genetic studies that have been well replicated and even become the basis of diagnostic testing, or from appropriately designed family studies.</oboInOwl:hasDefinition>
        <ns2:NCIT_NHC0>C36327</ns2:NCIT_NHC0>
        <ns2:NCIT_P366>Gene_Abnormality</ns2:NCIT_P366>
        <oboInOwl:hasExactSynonym>Gene Abnormality</oboInOwl:hasExactSynonym>
        <ns2:IAO_0000115>A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease.</ns2:IAO_0000115>
        <ns2:NCIT_P207>C1517478</ns2:NCIT_P207>
        <ns2:NCIT_P108>Gene Abnormality</ns2:NCIT_P108>
        <rdfs:seeAlso>http://www.case.edu/EpSO.owl#GeneticMutation</rdfs:seeAlso>
        <ns4:fromEpSO></ns4:fromEpSO>
        <ns2:NCIT_P106>Cell or Molecular Dysfunction</ns2:NCIT_P106>
        <ns2:IAO_0000412 rdf:resource="http://purl.obolibrary.org/obo/ncit.owl"/>
    </Class>
    


    <!-- https://bio.scai.fraunhofer.de/ontology/epilepsy#genetic_etiology -->

    <Class rdf:about="https://bio.scai.fraunhofer.de/ontology/epilepsy#genetic_etiology">
        <rdfs:label>genetic etiology</rdfs:label>
    </Class>
</rdf:RDF>



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



