<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010747"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://purl.obolibrary.org/obo/mondo#"
     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/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/">
    


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

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/11535 -->

    <Class rdf:about="http://identifiers.org/hgnc/11535">
        <rdfs:label>TAF1</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000477 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000477">
        <rdfs:label>focal dystonia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010747 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010747">
        <rdfs:label>X-linked dystonia-parkinsonism</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000477"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020065"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0021095"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/11535"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6752</ns4:IAO_0000233>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/dystonia_3_torsion_x_linked</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>MESH:C564048</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>X-linked dystonia Parkinsonism</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0090057</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>X-linked torsion dystonia-Parkinsonism syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>dystonia-Parkinsonism, X-linked, X-linked recessive</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Lubag</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0010747</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>dystonia-Parkinsonism, X-linked</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:53351</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0010533</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>X-linked dystonia-parkinsonism/Lubag</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NANDO:1200514</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C126330</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:698279003</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>DYT3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Lubag syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>XDP</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:314250</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>X-linked dystonia-Parkinsonism syndrome</oboInOwl:hasRelatedSynonym>
        <ns4:IAO_0000115>X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>MEDGEN:326820</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1839130</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>DYT-TAF1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>dystonia 3, torsion, X-linked</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>torsion dystonia-Parkinsonism, Filipino type</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/326820"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C564048"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/698279003"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1839130"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0090057"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C126330"/>
        <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_53351"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/314250"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020065 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020065">
        <rdfs:label>combined dystonia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0021095 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0021095">
        <rdfs:label>parkinsonian disorder</rdfs:label>
    </Class>
</rdf:RDF>



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



