<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0012784"?>
<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.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://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_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/16812 -->

    <Class rdf:about="http://identifiers.org/hgnc/16812">
        <rdfs:label>COQ8A</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0012784 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0012784">
        <rdfs:label>autosomal recessive ataxia due to ubiquinone deficiency</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0015244"/>
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0018151"/>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015244"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018151"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/16812"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/coenzyme_q10_deficiency_primary_4</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>SCAR9</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C2677589</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>coenzyme Q10 deficiency, primary, 4</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0012784</oboInOwl:id>
        <ns4:IAO_0000115>This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>coenzyme Q10 deficiency, primary, type 4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>autosomal recessive spinocerebellar ataxia type 9</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0070241</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:139485</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>autosomal recessive spinocerebellar ataxia 9</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:725394006</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:612016</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>ARCA2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>autosomal recessive ataxia due to coenzyme Q10 deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>COQ10D4</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0010294</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:436985</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C567436</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>autosomal recessive cerebellar ataxia type 2</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/436985"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C567436"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/725394006"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2677589"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0070241"/>
        <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_139485"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/612016"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015244 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015244">
        <rdfs:label>autosomal recessive cerebellar ataxia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018151 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018151">
        <rdfs:label>coenzyme Q10 deficiency</rdfs:label>
    </Class>
</rdf:RDF>



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



