<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0100079"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     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:ns4="http://purl.obolibrary.org/obo/"
     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://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://purl.obolibrary.org/obo/mondo#rare"/>
    <AnnotationProperty rdf:about="http://purl.org/dc/terms/creator"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
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    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
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    <!-- 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#disease_shares_features_of -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/mondo#disease_shares_features_of">
        <rdfs:label>disease shares features of</rdfs:label>
    </ObjectProperty>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Classes
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    <!-- http://identifiers.org/hgnc/10585 -->

    <Class rdf:about="http://identifiers.org/hgnc/10585">
        <rdfs:label>SCN1A</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100062 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100062">
        <rdfs:label>genetic developmental and epileptic encephalopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100079 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100079">
        <rdfs:label>developmental and epileptic encephalopathy, 6A</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100062"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_shares_features_of"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100135"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/10585"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/7693</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/8274</ns4:IAO_0000233>
        <oboInOwl:hasDbXref>OMIM:607208</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0026036</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>EIEE6</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>epileptic encephalopathy, early infantile, 6</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0100079</oboInOwl:id>
        <rdfs:comment>In Mondo, DEE6A is treated as a distinct class from Dravet syndrome (contrary to OMIM), as not every case of Dravet syndrome is caused by a variation in SCN1A. We recommend describing the phenotype, ie Dravet syndrome, or the genetic eitology, ie SCN1A to represent the concept in question. This is distinct from MONDO:0100135 Dravet syndrome. See https://github.com/monarch-initiative/mondo/issues/745</rdfs:comment>
        <oboInOwl:hasExactSynonym>developmental and epileptic encephalopathy, 6A</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>DEE6A</oboInOwl:hasExactSynonym>
        <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#rare"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/607208"/>
        <dcterms:creator rdf:resource="https://orcid.org/0000-0001-5208-3432"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100135 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100135">
        <rdfs:label>Dravet syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



