<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0018150"?>
<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:ns4="http://purl.obolibrary.org/obo/mondo#"
     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://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://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#hasNarrowSynonym"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005328 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005328">
        <rdfs:label>eye disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018150 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018150">
        <rdfs:label>Gaucher disease</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005328"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019255"/>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/gauchers_disease</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>Gaucher syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0008233</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:190794006</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:355</oboInOwl:hasDbXref>
        <oboInOwl:hasNarrowSynonym>acute cerebral Gaucher disease</oboInOwl:hasNarrowSynonym>
        <oboInOwl:id>MONDO:0018150</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>glucosyl cerebroside lipidosis</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>DOID:1926</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2200562</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MedDRA:10018048</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>ICD10CM:E75.22</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1177</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:1923566939</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>acid beta-glucosidase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>glucosylceramide beta-glucosidase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:D005776</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C61268</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>glucocerebrosidase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Gaucher disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>glucocerebrosidosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>lipoid histiocytosis (kerasin type)</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C0017205</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>sphingolipidosis 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NANDO:1200056</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:42164</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>glucosylceramidase deficiency</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1923566939"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10018048"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/42164"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D005776"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/190794006"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0017205"/>
        <skos:exactMatch rdf:resource="http://purl.bioontology.org/ontology/ICD10CM/E75.22"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_1926"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C61268"/>
        <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#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_355"/>
        <ns4:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0018150"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019255 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019255">
        <rdfs:label>sphingolipidosis</rdfs:label>
    </Class>
</rdf:RDF>



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



