<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0008222"?>
<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://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://www.geneontology.org/formats/oboInOwl#hasBroadSynonym"/>
    <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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
    


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


    <!-- http://purl.obolibrary.org/obo/RO_0004029 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004029">
        <rdfs:label>disease has feature</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/6263 -->

    <Class rdf:about="http://identifiers.org/hgnc/6263">
        <rdfs:label>KCNJ2</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0000347 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0000347">
        <rdfs:label>Micrognathia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0004308 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0004308">
        <rdfs:label>Ventricular arrhythmia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000995 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000995">
        <rdfs:label>familial periodic paralysis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008222 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008222">
        <rdfs:label>Andersen-Tawil syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000995"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019119"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019171"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100546"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/6263"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0000347"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0004308"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/andersen_cardiodysrhythmic_periodic_paralysis</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>Andersen syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>long QT syndrome type 7</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:37553</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>LQT7</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:1200827</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:327586</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Andersen-Tawil syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym>ATS</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasExactSynonym>Andersen cardiodysrhythmic periodic paralysis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:422348008</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:170390</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:D050030</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1883</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Andersen&#39;s syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.</ns4:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C1563715</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C84559</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0009453</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>long QT syndrome 7</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>ICD9:759.89</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0050434</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0008222</oboInOwl:id>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/327586"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D050030"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/422348008"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1563715"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050434"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C84559"/>
        <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#ncit_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_37553"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/170390"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019119 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019119">
        <rdfs:label>muscular channelopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019171 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019171">
        <rdfs:label>familial long QT syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100546 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100546">
        <rdfs:label>hereditary neuromuscular disease</rdfs:label>
    </Class>
</rdf:RDF>



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



