<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0014532"?>
<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:obo="http://purl.obolibrary.org/obo/"
     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/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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://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#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_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/15559 -->

    <Class rdf:about="http://identifiers.org/hgnc/15559">
        <rdfs:label>CHCHD10</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009637 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009637">
        <rdfs:label>inborn mitochondrial myopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0014532 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0014532">
        <rdfs:label>autosomal dominant mitochondrial myopathy with exercise intolerance</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0009637"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016387"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020123"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/15559"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/isolated_mitochondrial_myopathy</ns4:curated_content_resource>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/myopathy_isolated_mitochondrial_autosomal_dominant</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>DOID:0081357</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>myopathy, isolated mitochondrial, autosomal dominant</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:863950</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:616209</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0017794</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C4015513</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:457050</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>IMMD</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0014532</oboInOwl:id>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/863950"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4015513"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0081357"/>
        <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_457050"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/616209"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016387 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016387">
        <rdfs:label>mitochondrial oxidative phosphorylation disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020123 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020123">
        <rdfs:label>metabolic myopathy</rdfs:label>
    </Class>
</rdf:RDF>



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



