<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0018930"?>
<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:ns2="http://purl.obolibrary.org/obo/mondo#"
     xmlns:ns4="http://purl.obolibrary.org/obo/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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#excluded_subClassOf"/>
    <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://www.w3.org/2004/02/skos/core#relatedMatch"/>
    <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_0018930 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018930">
        <rdfs:label>monosomy 21</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0700124"/>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/monosomy_21</ns2:curated_content_resource>
        <oboInOwl:hasExactSynonym>21q- syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0010860</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>monosomy 21q</oboInOwl:hasRelatedSynonym>
        <ns4:IAO_0000115>Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>NCIT:C36469</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C537108</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>partial monosomy 21q</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>deletion 21q</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0018930</oboInOwl:id>
        <oboInOwl:hasExactSynonym>21q deletion syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>partial 21q monosomy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>monosomy type 21</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:574</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>21q monosomy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>chromosome 21q deletion</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C0795875</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>21q deletion</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:162883</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/162883"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537108"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0795875"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020226"/>
        <skos:relatedMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C36469"/>
        <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#rare"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_574"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020226 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020226">
        <rdfs:label>obsolete chromosomal anomaly with cataract</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0700124 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0700124">
        <rdfs:label>chromosome 21 disorder</rdfs:label>
    </Class>
</rdf:RDF>



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



