<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EPIO?iri=https://bio.scai.fraunhofer.de/ontology/epilepsy%23SCN8A-related_epilepsy_with_encephalopathy"?>
<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:obo="http://purl.obolibrary.org/obo/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="https://bio.scai.fraunhofer.de/ontology/epilepsy#">
    


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

    <AnnotationProperty rdf:about="https://bio.scai.fraunhofer.de/ontology/epilepsy#fromPubMed"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXRef"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDefinition"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/DOID_225 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_225">
        <rdfs:label>syndrome</rdfs:label>
    </Class>
    


    <!-- https://bio.scai.fraunhofer.de/ontology/epilepsy#SCN8A-related_epilepsy_with_encephalopathy -->

    <Class rdf:about="https://bio.scai.fraunhofer.de/ontology/epilepsy#SCN8A-related_epilepsy_with_encephalopathy">
        <rdfs:label>SCN8A-related epilepsy with encephalopathy</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_225"/>
        <ns3:fromPubMed rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</ns3:fromPubMed>
        <oboInOwl:hasExactSynonym>SCN8A-Related Epilepsy syndromes Class</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDefinition>SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy.The seizures in SCN8A-related epilepsy with encephalopathy include involuntary muscle contractions that occur before age 1 (infantile spasms), partial or complete loss of consciousness (absence seizures), involuntary muscle twitches (myoclonic seizures), or loss of consciousness with muscle rigidity and convulsions (tonic-clonic seizures). Most people with SCN8A-related epilepsy with encephalopathy have more than one type of seizure.</oboInOwl:hasDefinition>
        <oboInOwl:hasDbXRef>https://www.ncbi.nlm.nih.gov/pubmed/25568300</oboInOwl:hasDbXRef>
    </Class>
</rdf:RDF>



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



