<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0008818"?>
<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/mondo#ordo_malformation_syndrome"/>
    <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://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/13444 -->

    <Class rdf:about="http://identifiers.org/hgnc/13444">
        <rdfs:label>SLC2A10</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005385 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005385">
        <rdfs:label>vascular disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008818 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008818">
        <rdfs:label>arterial tortuosity syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005385"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0023603"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100237"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/13444"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/arterial_tortuosity_syndrome</ns5:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>arterial tortuosity</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:371764699</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:803</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1859726</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0050645</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>ATS</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>arterial tortuosity syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0008818</oboInOwl:id>
        <oboInOwl:hasDbXref>Orphanet:3342</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:458432002</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0000774</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:208050</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10CM:Q87.82</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C565942</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>MEDGEN:347942</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/371764699"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/347942"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C565942"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/458432002"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1859726"/>
        <skos:exactMatch rdf:resource="http://purl.bioontology.org/ontology/ICD10CM/Q87.82"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050645"/>
        <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#ordo_malformation_syndrome"/>
        <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_3342"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/208050"/>
    </Class>
    


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

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0023603">
        <rdfs:label>hereditary disorder of connective tissue</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100237 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100237">
        <rdfs:label>inherited cutis laxa</rdfs:label>
    </Class>
</rdf:RDF>



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



