<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0012081"?>
<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: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#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#inSubset"/>
    <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"/>
    


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

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- 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://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005027 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005027">
        <rdfs:label>epilepsy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005260 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005260">
        <rdfs:label>autism</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0012081 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0012081">
        <rdfs:label>15q11q13 microduplication syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016965"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#predisposes_towards"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005260"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/3492</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/8993</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/15q11q13_microduplication_syndrome</ns3:curated_content_resource>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/chromosome_15q11_q13_duplication_syndrome</ns3:curated_content_resource>
        <oboInOwl:hasDbXref>OMIM:608636</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:390767</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>15q11q13 duplication syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>trisomy 15q11-q13</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NCIT:C126692</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.</ns5:IAO_0000115>
        <oboInOwl:hasExactSynonym>dup(15)(q11q13)</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>15q11-q13 duplication syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C2675336</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:719427001</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>15q11-q13 microduplication syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0012081</oboInOwl:id>
        <oboInOwl:hasDbXref>GARD:0017172</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Dup15q</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:238446</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>trisomy 15q11q13</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>autism susceptibility 4</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/390767"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/719427001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2675336"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005027"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C126692"/>
        <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#ordo_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome"/>
        <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_238446"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/608636"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016965 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016965">
        <rdfs:label>partial duplication of the long arm of chromosome 15</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_238446 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_238446">
        <rdfs:label>obsolete_15q11q13 microduplication syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



