<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0019906"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns6="http://purl.obolibrary.org/obo/mondo#"
     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:dcterms="http://purl.org/dc/terms/"
     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/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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.org/dc/terms/conformsTo"/>
    <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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/RO_0004030 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004030">
        <rdfs:label>disease arises from structure</rdfs:label>
        <rdfs:label>disease arises from alteration in structure</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/CHR_9606-chr11 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/CHR_9606-chr11">
        <rdfs:label>chromosome 11 (Human)</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019906 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019906">
        <rdfs:label>ring chromosome 11</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0700091"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004030"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/CHR_9606-chr11"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0700018"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0700091"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11</rdfs:seeAlso>
        <ns6:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/ring_chromosome_11</ns6:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>Ring chromosome 11 syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:96175</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0010846</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>chromosome 11 ring</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>r(11) syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Ring 11</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>r11</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>ICD9:758.89</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>RC11</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:539256</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.</ns5:IAO_0000115>
        <oboInOwl:id>MONDO:0019906</oboInOwl:id>
        <oboInOwl:hasDbXref>SCTID:111310003</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0265444</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Ring chromosome type 11</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/539256"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/111310003"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0265444"/>
        <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"/>
        <dcterms:conformsTo rdf:resource="http://purl.obolibrary.org/obo/mondo/patterns/ring_chromosome_anomaly.yaml"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_96175"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0700018 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0700018">
        <rdfs:label>chromosome 11 disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0700091 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0700091">
        <rdfs:label>ring chromosome disorder</rdfs:label>
    </Class>
</rdf:RDF>



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



