<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0012193"?>
<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:ORDO="http://www.orpha.net/ORDO/"
     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://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"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0012193 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0012193">
        <rdfs:label>autosomal dominant limb-girdle muscular dystrophy type 1G</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015151"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_dominant_3</ns4:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>limb-girdle muscular dystrophy type 1G</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C1836765</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:55596</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0012531</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>muscular dystrophy, limb-girdle, autosomal dominant 3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>LGMD1G</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:322993</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:609115</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C563794</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>limb-girdle muscular dystrophy, type 1G</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>DOID:0110306</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:719990003</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0012193</oboInOwl:id>
        <oboInOwl:hasExactSynonym>HNRNPDL autosomal dominant limb-girdle muscular dystrophy</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.</ns3:IAO_0000115>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/322993"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C563794"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/719990003"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1836765"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0110306"/>
        <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_55596"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/609115"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015151 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015151">
        <rdfs:label>muscular dystrophy, limb-girdle, autosomal dominant</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_55596 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_55596">
        <rdfs:label>obsolete_autosomal dominant limb-girdle muscular dystrophy type 1G</rdfs:label>
    </Class>
</rdf:RDF>



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



