<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0011945"?>
<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:ORDO="http://www.orpha.net/ORDO/"
     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://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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#inSubset"/>
    <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"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0011945 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011945">
        <rdfs:label>Gaucher disease perinatal lethal</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018150"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6749</ns3:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/gaucher_disease_perinatal_lethal_2</ns4:curated_content_resource>
        <oboInOwl:id>MONDO:0011945</oboInOwl:id>
        <oboInOwl:hasExactSynonym>Gaucher disease perinatal lethal</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Gaucher disease, collodion type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Gaucher disease collodion type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:85212</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Gaucher&#39;s disease perinatal lethal</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>Gaucher disease, perinatal-lethal form</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:870313002</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>fetal Gaucher disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:374996</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:608013</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C564306</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1842704</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0110960</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>foetal Gaucher disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0010675</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>perinatal lethal Gaucher disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Gaucher disease, perinatal lethal</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/374996"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C564306"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/870313002"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1842704"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0110960"/>
        <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_subtype_of_a_disorder"/>
        <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_85212"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/608013"/>
    </Class>
    


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

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018150">
        <rdfs:label>Gaucher disease</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_85212 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_85212">
        <rdfs:label>obsolete_Fetal Gaucher disease</rdfs:label>
    </Class>
</rdf:RDF>



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



