<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0014708"?>
<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/"
     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/"
     xmlns:ns3="http://purl.obolibrary.org/obo/mondo#">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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#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://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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#doid_rare"/>
    <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-chr14 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/CHR_9606-chr14">
        <rdfs:label>chromosome 14 (Human)</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005027 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005027">
        <rdfs:label>epilepsy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0014708 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0014708">
        <rdfs:label>ring chromosome 14</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-chr14"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0700021"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0700091"/>
        <ns6:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns6:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14</rdfs:seeAlso>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/ring_chromosome_14_syndrome</ns3:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>chromosome 14 ring</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C535487</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>RING chromosome 14 syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:419284</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0006072</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:758.89</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:616606</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Chromosome 14 Ring</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NORD:939</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>ring chromosome 14 syndrome, isolated cases</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Ring chromosome type 14</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:1440</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C2930916</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0014708</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>Ring 14</oboInOwl:hasRelatedSynonym>
        <ns6:IAO_0000115>Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.</ns6:IAO_0000115>
        <oboInOwl:hasDbXref>DOID:0070621</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:702345009</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/419284"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C535487"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/702345009"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2930916"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0070621"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005027"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#doid_rare"/>
        <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_1440"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/616606"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0700021 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0700021">
        <rdfs:label>chromosome 14 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 -->



