<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/KTAO?iri=http://purl.obolibrary.org/obo/MONDO_0009925"?>
<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/"
     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:dcterms="http://purl.org/dc/terms/"
     xmlns:skos="http://www.w3.org/2004/02/skos/core#"
     xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/mondo#">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <AnnotationProperty rdf:about="http://purl.org/dc/terms/conformsTo"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#excluded_subClassOf"/>
    <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.geneontology.org/formats/oboInOwl#hasRelatedSynonym"/>
    <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://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#closeMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0002573 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002573">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">has modifier</rdfs:label>
    </ObjectProperty>
    


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

    


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

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002320">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">congenital nervous system disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0006025 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006025">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">autosomal recessive disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009925 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009925">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">autosomal recessive inherited pseudoxanthoma elasticum</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0024308"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0002573"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0021152"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002320"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0006025"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015331"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015332"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015512"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015953"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016340"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019292"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020272"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0023603"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0024255"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100091"/>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">AR inherited pseudoxanthoma elasticum</oboInOwl:hasExactSynonym>
        <ns5:IAO_0000115 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">An autosomal recessive form of PXE.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">DOID:2738</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Gronblad Strandberg syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Gronblad-Strandberg syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Gronblad-Strandberg-Touraine syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ICD10:Q82.8</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ICD9:757.39</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MESH:D011561</oboInOwl:hasDbXref>
        <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MONDO:0009925</oboInOwl:id>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MedDRA:10037150</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">NCIT:C85036</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">OMIM:264800</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Orphanet:758</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PXE</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PXE, modifier of severity of</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">SCTID:402782006</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">SCTID:72744008</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UMLS:C0033847</oboInOwl:hasDbXref>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum</rdfs:seeAlso>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">pseudoxanthoma elasticum</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">pseudoxanthoma elasticum, modifier of severity of</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/meddra/10037150"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D011561"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/omim/264800"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/snomedct/157017000"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/snomedct/205574000"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/snomedct/268355000"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/402782006"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/snomedct/7109007"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/72744008"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0033847"/>
        <skos:closeMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0376359"/>
        <skos:closeMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C3279392"/>
        <skos:closeMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C3279393"/>
        <oboInOwl:inSubset rdf:resource="http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_2738"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0024308"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C85036"/>
        <ns5:IAO_0000412 rdf:resource="http://purl.obolibrary.org/obo/mondo.owl"/>
        <dcterms:conformsTo rdf:resource="http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_758"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015331 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015331">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">malformation syndrome with skin/mucosae involvement</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015332 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015332">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">rare developmental defect with connective tissue involvement</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015512 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015512">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">genetic hypertension</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015953 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015953">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">genetic central nervous system and retinal vascular disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016340 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016340">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">familial restrictive cardiomyopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019292 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019292">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">dermis elastic tissue disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020272 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020272">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">connective tissue disease with eye involvement</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0021152 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0021152">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">inherited</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0023603 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0023603">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">hereditary connective tissue disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0024255 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0024255">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">genetic skin disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0024308 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0024308">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">pseudoxanthoma elasticum (inherited or acquired)</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100091 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100091">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">inherited pseudoxanthoma elasticum</rdfs:label>
    </Class>
</rdf:RDF>



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



