<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0016840"?>
<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: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://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
    <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#curated_content_resource"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome"/>
    <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.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
    <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_0016840 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016840">
        <rdfs:label>trisomy 17p</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016950"/>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/trisomy_17p</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>Orphanet:261290</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:717049005</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>trisomy type 17p</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>17p trisomy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>partial trisomy 17p</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>Duplication 17p</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C0795865</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:167078</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>GARD:0005318</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>17p duplication</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0016840</oboInOwl:id>
        <oboInOwl:hasDbXref>MESH:C538048</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>dup(17p)</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>chromosome 17p duplication</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/167078"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C538048"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/717049005"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0795865"/>
        <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#rare"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_261290"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016950 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016950">
        <rdfs:label>partial duplication of the short arm of chromosome 17</rdfs:label>
    </Class>
</rdf:RDF>



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



