<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0019896"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns6="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: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#gard_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#otar"/>
    <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://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.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#excluded_from_qc_check"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_etiological_subtype"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0004030 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004030">
        <rdfs:label>disease arises from structure</rdfs:label>
        <rdfs:label>disease arises from alteration in structure</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/CHR_9606-chr9q34 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/CHR_9606-chr9q34">
        <rdfs:label>9q34 (Human)</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_0016908 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016908">
        <rdfs:label>partial monosomy of the long arm of chromosome 9</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019896 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019896">
        <rdfs:label>Kleefstra syndrome due to 9q34 microdeletion</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016908"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0027407"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004030"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/CHR_9606-chr9q34"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns6:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/3664</ns6:IAO_0000233>
        <ns6:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6311</ns6:IAO_0000233>
        <ns6:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9285</ns6:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/kleefstra_syndrome_1</ns3:curated_content_resource>
        <oboInOwl:id>MONDO:0019896</oboInOwl:id>
        <oboInOwl:hasDbXref>Orphanet:96147</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>9qSTDS</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0016846</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Kleefstra syndrome due to del(9)(q34)</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Kleefstra syndrome due to 9q subtelomeric deletion</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DECIPHER:52</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>9q subtelomeric deletion syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Kleefstra syndrome due to monosomy 9q34</oboInOwl:hasExactSynonym>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005027"/>
        <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_etiological_subtype"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <ns3:excluded_from_qc_check rdf:resource="http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_96147"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0027407 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0027407">
        <rdfs:label>Kleefstra syndrome 1</rdfs:label>
    </Class>
</rdf:RDF>



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



