<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0008050"?>
<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://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://purl.obolibrary.org/obo/IAO_0000233"/>
    <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#clingen"/>
    <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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002320 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002320">
        <rdfs:label>congenital nervous system disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008050 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008050">
        <rdfs:label>MYH7-related skeletal myopathy</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002320"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016195"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018949"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019952"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9458</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/myopathy_distal_1</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>myopathy, late distal hereditary</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>MPD1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:1647391</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0008050</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>myosin storage myopathy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>distal myopathy type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>myopathy, distal, type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>myopathy, distal, 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>MYH7-related skeletal myopathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Laing distal myopathy</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>Orphanet:59135</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>myopathy distal, type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0070197</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C4552004</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0010769</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:160500</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>myopathy, distal, early-onset, autosomal dominant</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:764859001</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1647391"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/764859001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4552004"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0070197"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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_59135"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/160500"/>
        <ns4:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0008050"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016195 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016195">
        <rdfs:label>neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018949 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018949">
        <rdfs:label>distal myopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019952 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019952">
        <rdfs:label>congenital myopathy</rdfs:label>
    </Class>
</rdf:RDF>



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



