<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0007893"?>
<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/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://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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#should_conform_to"/>
    


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

    


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

    


    <!-- 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://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_0002254 -->

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


    <!-- http://purl.obolibrary.org/obo/MONDO_0007893 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007893">
        <rdfs:label>Noonan syndrome with multiple lentigines</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000426"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015161"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020297"/>
        <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>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/noonan_syndrome_with_multiple_lentigines</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>UMLS:C0175704</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Noonan syndrome with multiple lentigines</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:939197023</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>generalised lentiginosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>familial multiple lentigines syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:D044542</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.</ns4:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NCIT:C84820</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MedDRA:10062901</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:111306001</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:500</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1360</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>LEOPARD syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Cardiomyopathic lentiginosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIMPS:151100</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:14291</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0007893</oboInOwl:id>
        <oboInOwl:hasDbXref>GARD:0001100</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:709.09</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:104494</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/939197023"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10062901"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/104494"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D044542"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/111306001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0175704"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_14291"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C84820"/>
        <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#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"/>
        <ns5:should_conform_to rdf:resource="http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_500"/>
        <skos:exactMatch rdf:resource="https://omim.org/phenotypicSeries/PS151100"/>
        <ns5:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0007893"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015161 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015161">
        <rdfs:label>multiple congenital anomalies/dysmorphic syndrome without intellectual disability</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>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020297 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020297">
        <rdfs:label>Noonan syndrome and Noonan-related syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



