<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0015282"?>
<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/"
     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: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.obolibrary.org/obo/mondo#otar"/>
    <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/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#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.geneontology.org/formats/oboInOwl#inSubset"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Datatypes
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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

    


    <!-- http://purl.obolibrary.org/obo/mondo#disease_has_major_feature -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/mondo#disease_has_major_feature">
        <rdfs:label>disease has major feature</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/HP_0000518 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0000518">
        <rdfs:label>Cataract</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0001644 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0001644">
        <rdfs:label>Dilated cardiomyopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0003816 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0003816">
        <rdfs:label>articular cartilage disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015282 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015282">
        <rdfs:label>cardiomyopathy-cataract-hip spine disease syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_has_major_feature"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0003816"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_has_major_feature"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0000518"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_has_major_feature"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0001644"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/324</ns5:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease</rdfs:seeAlso>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/cardiomyopathy_cataract_hip_spine_disease_syndrome</ns3:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>cardiomyopathy cataract hip spine disease</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>familial dilated cardiomyopathy associated with cataracts and hip-spine disease</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C2931548</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0001102</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0015282</oboInOwl:id>
        <ns5:IAO_0000115>Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>MEDGEN:419439</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:1345</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Krasnow Qazi syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C537616</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Krasnow Qazi Yermakov syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:720609003</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Krasnow-Qazi syndrome</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/419439"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537616"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/720609003"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2931548"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016337"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_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_1345"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016337 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016337">
        <rdfs:label>obsolete syndrome associated with dilated cardiomyopathy</rdfs:label>
    </Class>
</rdf:RDF>



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



