<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0024545"?>
<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: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/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_0009685 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009685">
        <rdfs:label>Miyoshi myopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016145 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016145">
        <rdfs:label>neuromuscular disease caused by qualitative or quantitative defects of dysferlin</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0024545 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0024545">
        <rdfs:label>Miyoshi muscular dystrophy 1</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0009685"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016145"/>
        <oboInOwl:hasDbXref>GARD:0025425</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:254130</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0070199</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0024545</oboInOwl:id>
        <oboInOwl:hasExactSynonym>DYSF Miyoshi myopathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>MMD1</oboInOwl:hasRelatedSynonym>
        <rdfs:seeAlso>https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy</rdfs:seeAlso>
        <oboInOwl:hasExactSynonym>Miyoshi myopathy caused by mutation in DYSF</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>MEDGEN:1640757</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C4551973</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1640757"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4551973"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0070199"/>
        <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/254130"/>
    </Class>
</rdf:RDF>



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



