<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0018982"?>
<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:ns2="http://purl.obolibrary.org/obo/mondo#"
     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#excluded_subClassOf"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <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#hasBroadSynonym"/>
    <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"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0001982 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0001982">
        <rdfs:label>Niemann-Pick disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0006025 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006025">
        <rdfs:label>autosomal recessive disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0017037 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017037">
        <rdfs:label>obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018299 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018299">
        <rdfs:label>obsolete sphingolipidosis with epilepsy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018982 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018982">
        <rdfs:label>Niemann-Pick disease type C</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0001982"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0006025"/>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9097</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9285</ns4:IAO_0000233>
        <oboInOwl:hasDbXref>MESH:D052556</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:66751000</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0220756</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Niemann Pick Disease Type C</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.</ns4:IAO_0000115>
        <oboInOwl:hasBroadSynonym>NPC</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>Orphanet:646</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10CM:E75.242</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0018982</oboInOwl:id>
        <oboInOwl:hasDbXref>MEDGEN:67399</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1509</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0007207</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:812702125</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200063</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/812702125"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/67399"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D052556"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/66751000"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0220756"/>
        <skos:exactMatch rdf:resource="http://purl.bioontology.org/ontology/ICD10CM/E75.242"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0017037"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018299"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019058"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020143"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020244"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020257"/>
        <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_646"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019058 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019058">
        <rdfs:label>obsolete neurometabolic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020143 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020143">
        <rdfs:label>cerebral lipidosis with dementia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020244 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020244">
        <rdfs:label>obsolete unclassified primitive or secondary maculopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020257 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020257">
        <rdfs:label>supranuclear oculomotor palsy</rdfs:label>
    </Class>
</rdf:RDF>



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



