<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0011146"?>
<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: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.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#excluded_subClassOf"/>
    <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://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#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_0004030 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004030">
        <rdfs:label>disease arises from structure</rdfs:label>
        <rdfs:label>disease arises from alteration in structure</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/CHR_9606-chr12p -->

    <Class rdf:about="http://purl.obolibrary.org/obo/CHR_9606-chr12p">
        <rdfs:label>12p (Human)</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005027 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005027">
        <rdfs:label>epilepsy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0011146 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011146">
        <rdfs:label>tetrasomy 12p</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016933"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019716"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004030"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/CHR_9606-chr12p"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/3492</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/pallister_killian_syndrome</ns3:curated_content_resource>
        <oboInOwl:hasExactSynonym>Pallister-Killian syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Pallister-Killian mosaic syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0008421</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>tetrasomy type 12p</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Pallister Killian syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NORD:1546</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:601803</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Killian syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0011146</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>PKS</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>ICD9:758.81</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Isochromosome 12p syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Pallister Killian Mosaic Syndrome</oboInOwl:hasExactSynonym>
        <ns5:IAO_0000115>Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>Orphanet:884</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Pallister-Killian syndrome, Somatic mosaicism</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:9527009</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0265449</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Pallister mosaic syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>Teschler-Nicola Killian syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Isochromosome 12p mosaicism</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C538105</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Killian Teschler-Nicola syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>chromosome 12, Isochromosome 12p syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NCIT:C75458</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:120540</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/120540"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C538105"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/9527009"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0265449"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005027"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C75458"/>
        <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#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_884"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/601803"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016933 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016933">
        <rdfs:label>partial trisomy/tetrasomy of the short arm of chromosome 12</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019716 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019716">
        <rdfs:label>overgrowth syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



