<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/KTAO?iri=http://purl.obolibrary.org/obo/MONDO_0008104"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     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/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000412"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#closeMatch"/>
    <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"/>
    


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

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/RO_0004020 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004020">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">disease has basis in dysfunction of</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/9644 -->

    <Class rdf:about="http://identifiers.org/hgnc/9644">
        <rdfs:label>PTPN11</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008104 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008104">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Noonan syndrome 1</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018997"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004020"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/9644"/>
            </Restriction>
        </rdfs:subClassOf>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">DOID:0060578</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">GARD:0007223</oboInOwl:hasDbXref>
        <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MONDO:0008104</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Male Turner syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">NCIT:C75459</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">NS1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Noonan syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Noonan syndrome 1</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Noonan syndrome caused by mutations in the PTPN11 gene.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Noonan syndrome type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">OMIM:163950</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Turner phenotype with normal karyotype</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">female pseudo-Turner syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">pterygium colli syndrome</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/omim/163950"/>
        <skos:closeMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0041409"/>
        <skos:closeMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1527404"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0060578"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C75459"/>
        <ns3:IAO_0000412 rdf:resource="http://purl.obolibrary.org/obo/mondo.owl"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018997 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018997">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Noonan syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



