<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0015627"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://purl.obolibrary.org/obo/mondo#"
     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/"
     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#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.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://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_0004020 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004020">
        <rdfs:label>disease has basis in dysfunction of</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/GO_0005594 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GO_0005594">
        <rdfs:label>collagen type IX trimer</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0004603 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0004603">
        <rdfs:label>collagenopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015627 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015627">
        <rdfs:label>multiple epiphyseal dysplasia due to collagen 9 anomaly</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0016648"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004020"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GO_0005594"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0004603"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016648"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0023603"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004020"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GO_0005594"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/multiple_epiphyseal_dysplasia_due_to_collagen_9_anomaly</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>MEDGEN:1647610</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:166002</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:766717008</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:741183905</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0070305</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0015627</oboInOwl:id>
        <oboInOwl:hasDbXref>NANDO:2201016</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C4707798</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0015024</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.</ns4:IAO_0000115>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/741183905"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1647610"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/766717008"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4707798"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0070305"/>
        <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#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_166002"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016648 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016648">
        <rdfs:label>multiple epiphyseal dysplasia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0023603 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0023603">
        <rdfs:label>hereditary disorder of connective tissue</rdfs:label>
    </Class>
</rdf:RDF>



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



