<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0009159"?>
<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/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#clingen"/>
    <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_0009159 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009159">
        <rdfs:label>Ehlers-Danlos syndrome, cardiac valvular type</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100547"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100606"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/8761</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/ehlers_danlos_syndrome_cardiac_valvular_type</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>cardiac-valvular EDS</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>EDSCV</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C4303789</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0009159</oboInOwl:id>
        <oboInOwl:hasExactSynonym>cvEDS</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0080730</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Ehlers-Danlos syndrome, arthrochalasis type</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:225320</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C536200</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:230851</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>cardiac-valvular Ehlers-Danlos syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:929458</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0012613</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:531375176</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:720858001</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>EDS, cardiac valvular type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>cardiac valvular form of Ehlers-Danlos syndrome</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/531375176"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/929458"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C536200"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/720858001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4303789"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0080730"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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#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_230851"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/225320"/>
        <ns4:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0009159"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100547 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100547">
        <rdfs:label>cardiogenetic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100606 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100606">
        <rdfs:label>COL1A2-related Ehlers-Danlos syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



