<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0016949"?>
<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: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:ns4="http://purl.obolibrary.org/obo/mondo#"
     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/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#hasRelatedSynonym"/>
    <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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016934 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016934">
        <rdfs:label>partial duplication of chromosome 16</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016949 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016949">
        <rdfs:label>partial duplication of the short arm of chromosome 16</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016934"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/3492</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/partial_duplication_of_the_short_arm_of_chromosome_16</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>partial duplication of the short arm of chromosome type 16</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:262794</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>trisomy 16p</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:208643</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0795861</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>16p duplication</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0016949</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>partial trisomy 16p</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>chromosome 16p duplication</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>16p trisomy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>partial trisomy of the short arm of chromosome 16</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:325064766</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Duplication 16p</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>partial trisomy of chromosome 16p</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>partial duplication of chromosome 16p</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/325064766"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/208643"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0795861"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_grouping"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_262794"/>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_262794 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_262794">
        <rdfs:label>obsolete_partial duplication of the short arm of chromosome 16</rdfs:label>
    </Class>
</rdf:RDF>



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



