<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0009696"?>
<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:ORDO="http://www.orpha.net/ORDO/"
     xmlns:ns2="http://purl.obolibrary.org/obo/mondo#"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://www.ebi.ac.uk/efo/">
    


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

    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#excluded_subClassOf"/>
    <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://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://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#closeMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://www.ebi.ac.uk/efo/gwas_trait"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005395 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005395">
        <rdfs:label>movement disorder</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>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100577"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0800487"/>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/8602</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9097</ns5:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy</rdfs:seeAlso>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.epilepsydiagnosis.org/syndrome/jme-overview.html</rdfs:seeAlso>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/epilepsy_myoclonic_juvenile</ns2:curated_content_resource>
        <ns3:gwas_trait rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</ns3:gwas_trait>
        <oboInOwl:hasExactSynonym>EJM</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:254770</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10CM:G40.B</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:4890</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MedDRA:10071082</oboInOwl:hasDbXref>
        <oboInOwl:hasNarrowSynonym>petit mal, impulsive</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasDbXref>MESH:D020190</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>The most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).</ns5:IAO_0000115>
        <oboInOwl:hasExactSynonym>myoclonic epilepsy, juvenile, 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIMPS:254770</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:78738</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:1014397110</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0006808</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:307</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>JME</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>epilepsy, myoclonic juvenile</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>ICD9:345.10</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C84796</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0270853</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>myoclonic epilepsy, juvenile</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>juvenile myoclonus epilepsy</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0009696</oboInOwl:id>
        <oboInOwl:hasDbXref>SCTID:6204001</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:606904</oboInOwl:hasDbXref>
        <oboInOwl:hasNarrowSynonym>myoclonic epilepsy, juvenile, susceptibility to, 1</oboInOwl:hasNarrowSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1014397110"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10071082"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/78738"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D020190"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/6204001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0270853"/>
        <skos:exactMatch rdf:resource="http://purl.bioontology.org/ontology/ICD10CM/G40.B"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_4890"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000415"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005395"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0017704"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100030"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C84796"/>
        <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#nord_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#omim_susceptibility"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#predisposition"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_307"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/254770"/>
        <skos:exactMatch rdf:resource="https://omim.org/phenotypicSeries/PS254770"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0017704 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017704">
        <rdfs:label>familial partial epilepsy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100577 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100577">
        <rdfs:label>myoclonic epilepsy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0800487 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0800487">
        <rdfs:label>variable-age onset idiopathic generalized epilepsy syndrome</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_307 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_307">
        <rdfs:label>obsolete_juvenile myoclonic epilepsy</rdfs:label>
    </Class>
</rdf:RDF>



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



