<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0013699"?>
<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#gard_rare"/>
    <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://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_0000053 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0000053">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#InverseFunctionalProperty"/>
        <rdfs:label>has characteristic</rdfs:label>
        <rdfs:label xml:lang="en">has characteristic</rdfs:label>
    </ObjectProperty>
    


    <!-- 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/9122 -->

    <Class rdf:about="http://identifiers.org/hgnc/9122">
        <rdfs:label>PMS2</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0000006 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0000006">
        <rdfs:label>Autosomal dominant inheritance</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005835 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005835">
        <rdfs:label>Lynch syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0013699 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0013699">
        <rdfs:label>Lynch syndrome 4</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0018630"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0000053"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0000006"/>
                    </Restriction>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                        <someValuesFrom rdf:resource="http://identifiers.org/hgnc/9122"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005835"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/9122"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/5666</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9178</ns4:IAO_0000233>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/lynch_syndrome_4</ns5:curated_content_resource>
        <oboInOwl:id>MONDO:0013699</oboInOwl:id>
        <oboInOwl:hasDbXref>UMLS:C1838333</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>PMS2-related Lynch syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>HNPCC4</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C563971</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>PMS2 hereditary nonpolyposis colon cancer</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:325005</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>colorectal cancer, hereditary nonpolyposis, type 4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0070275</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>An autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>GARD:0015791</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hereditary nonpolyposis colon cancer caused by mutation in PMS2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:614337</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/325005"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C563971"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1838333"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0070275"/>
        <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#rare"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/614337"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018630 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018630">
        <rdfs:label>hereditary nonpolyposis colon cancer</rdfs:label>
    </Class>
</rdf:RDF>



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



