<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0009783"?>
<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://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000090 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000090">
        <rdfs:label>progressive external ophthalmoplegia with mitochondrial DNA deletions</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009783 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009783">
        <rdfs:label>progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000090"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016810"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/1191/progressive-external-ophthalmoplegia-autosomal-recessive-1</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/progressive_external_ophthalmoplegia_with_mitochondrial_dna_deletions_autosomal_recessive_1</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>POLG autosomal recessive progressive external ophthalmoplegia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0111522</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:897191</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>arPEO</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C4225153</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>cerebellar ataxia infantile with progressive external ophthalmoplegia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>PEOB1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>progressive external ophthalmoplegia with cerebellar ataxia infantile</oboInOwl:hasRelatedSynonym>
        <ns3:IAO_0000115>Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>OMIM:258450</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0009783</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>autosomal recessive progressive external ophthalmoplegia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0015215</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/897191"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4225153"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0111522"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/258450"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016810 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016810">
        <rdfs:label>autosomal recessive progressive external ophthalmoplegia</rdfs:label>
    </Class>
</rdf:RDF>



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



