<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010218"?>
<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: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#curated_content_resource"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym"/>
    <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#nord_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010218 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010218">
        <rdfs:label>46,XX sex reversal 2</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100249"/>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/46xx_sex_reversal_2_2</ns3:curated_content_resource>
        <oboInOwl:hasDbXref>MEDGEN:411414</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:278850</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>46,XX Sex reversal type 2</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0010218</oboInOwl:id>
        <oboInOwl:hasDbXref>DOID:0111763</oboInOwl:hasDbXref>
        <rdfs:comment>&quot;46XX sex reversal 2&quot; is caused by heterozygous duplication or triplication of a 68-kb regulatory region (XXSR) -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24 (OMIIM:278850)</rdfs:comment>
        <oboInOwl:hasExactSynonym>46,XX sex reversal 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>46,XX SEX reversal 2</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C2749215</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>chromosome 17Q24 Duplication syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0015249</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>SRXX2</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>46XX sex reversal 2</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/411414"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2749215"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0111763"/>
        <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/278850"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100249 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100249">
        <rdfs:label>46,XX testicular disorder of sex development</rdfs:label>
    </Class>
</rdf:RDF>



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



