<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/BAO?iri=http://purl.obolibrary.org/obo/DOID_0050759"?>
<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:ns2="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://www.geneontology.org/formats/oboInOwl#hasOBONamespace"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#created_by"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#creation_date"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000412"/>
    <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.w3.org/2004/02/skos/core#narrowMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/DOID_0050759 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0050759">
        <rdfs:label>myotonic dystrophy type 2</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_450"/>
        <ns2:IAO_0000115>A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.</ns2:IAO_0000115>
        <oboInOwl:hasDbXref>SNOMEDCT_US_2020_03_01:715788001</oboInOwl:hasDbXref>
        <oboInOwl:id>DOID:0050759</oboInOwl:id>
        <oboInOwl:hasDbXref>UMLS_CUI:C0553604</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCI:C122790</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:9728</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:D020967</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:602668</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9CM:359.2</oboInOwl:hasDbXref>
        <oboInOwl:creation_date>2013-01-16T01:27:31Z</oboInOwl:creation_date>
        <oboInOwl:hasDbXref>NCI:C122789</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SNOMEDCT_US_2020_03_01:155096007</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS_CUI:C0221055</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10CM:G71.1</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCI:C84913</oboInOwl:hasDbXref>
        <oboInOwl:created_by>lschriml</oboInOwl:created_by>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <oboInOwl:hasDbXref>ICD10CM:G71.19</oboInOwl:hasDbXref>
        <skos:narrowMatch>MESH:C535686</skos:narrowMatch>
        <oboInOwl:hasDbXref>SNOMEDCT_US_2020_03_01:41574007</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS_CUI:C0752355</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym xml:lang="en">proximal myotonic myopathy</oboInOwl:hasExactSynonym>
        <oboInOwl:inSubset rdf:resource="http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus"/>
        <ns2:IAO_0000412 rdf:resource="http://purl.obolibrary.org/obo/doid.owl"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_450 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_450">
        <rdfs:label>myotonic disease</rdfs:label>
    </Class>
</rdf:RDF>



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



