<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010418"?>
<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#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_0010418 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010418">
        <rdfs:label>hereditary spastic paraplegia 34</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015149"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns3:IAO_0000233>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6752</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/spastic_paraplegia_34_x_linked</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>GARD:0017063</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:300750</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:763370008</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:437069</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SPG34</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>hereditary spastic paraplegia type 34</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0110785</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C567465</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>spastic paraplegia 34, X-linked, X-linked recessive</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0010418</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>spastic paraplegia 34, X-linked</oboInOwl:hasRelatedSynonym>
        <ns3:IAO_0000115>X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>Orphanet:171607</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C2677897</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>X-linked spastic paraplegia type 34</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/437069"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C567465"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/763370008"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2677897"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0110785"/>
        <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_171607"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/300750"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015149 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015149">
        <rdfs:label>pure hereditary spastic paraplegia</rdfs:label>
    </Class>
</rdf:RDF>



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



