<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.orpha.net/ORDO/Orphanet_1727"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     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:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ORDO="http://www.orpha.net/ORDO/"
     xmlns:ns4="http://www.ebi.ac.uk/efo/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/">
    


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

    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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.ebi.ac.uk/efo/definition_citation"/>
    


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

    


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

    


    <!-- http://www.orpha.net/ORDO/Orphanet_1727 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_1727">
        <rdfs:label>22q11.2 microduplication syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_98132"/>
        <oboInOwl:hasDbXref>ICD10:Q92.3</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Duplication 22q11.2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Trisomy 22q11.2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Dup(22)(q11)</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:608363</oboInOwl:hasDbXref>
        <ns4:definition_citation>orphanet</ns4:definition_citation>
        <ns3:IAO_0000115>The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.</ns3:IAO_0000115>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_98132 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_98132">
        <rdfs:label>Partial autosomal trisomy/tetrasomy</rdfs:label>
    </Class>
</rdf:RDF>



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



