<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0008280"?>
<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://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#doid_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#clingen"/>
    <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.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_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/11389 -->

    <Class rdf:about="http://identifiers.org/hgnc/11389">
        <rdfs:label>STK11</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000426 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000426">
        <rdfs:label>autosomal dominant disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0006365 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006365">
        <rdfs:label>Peutz-Jeghers polyp</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008280 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008280">
        <rdfs:label>Peutz-Jeghers syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000426"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015185"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019289"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/11389"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0006365"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9178</ns4:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/peutz_jeghers_syndrome</ns5:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>Peutz Jeghers polyposis</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>hamartomatous intestinal polyposis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:969253189</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Peutz-Jeghers syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C0031269</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:175200</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1570</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Peutz&#39;s syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>polyposis, hamartomatous intestinal</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>polyps and spots syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:54411001</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0007378</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>PJS</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>periorificial lentiginosis syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Peutz Jeghers Syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:18404</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>lentiginosis, perioral</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:2869</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:3852</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:D010580</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>An autosomal dominant disorder caused by pathogenic variants in the STK11 gene, characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of GI and extra-GI malignancies.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>ICD9:759.6</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>polyps-and-Spots syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>STK11-related Peutz-Jeghers syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0008280</oboInOwl:id>
        <oboInOwl:hasDbXref>MedDRA:10034764</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C3324</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2200917</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Jeghers-Peutz syndrome</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/969253189"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10034764"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/18404"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D010580"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/54411001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0031269"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_3852"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C3324"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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#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_2869"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/175200"/>
        <ns5:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0008280"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015185 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015185">
        <rdfs:label>intestinal polyposis syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019289 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019289">
        <rdfs:label>hyperpigmentation of the skin</rdfs:label>
    </Class>
</rdf:RDF>



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



