<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0013135"?>
<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#gard_rare"/>
    <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://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://purl.obolibrary.org/obo/mondo#clingen"/>
    <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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/11445 -->

    <Class rdf:about="http://identifiers.org/hgnc/11445">
        <rdfs:label>STXBP2</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0013135 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0013135">
        <rdfs:label>familial hemophagocytic lymphohistiocytosis 5</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0015541"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                        <someValuesFrom rdf:resource="http://identifiers.org/hgnc/11445"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015541"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/11445"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns4:IAO_0000233>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/familial_hemophagocytic_lymphohistiocytosis_5</ns5:curated_content_resource>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hemophagocytic_lymphohistiocytosis_familial_5_with_or_without_microvillus_inclusion_disease</ns5:curated_content_resource>
        <ns4:IAO_0000115>Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.</ns4:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>hemophagocytic lymphohistiocytosis, familial, 5</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0015614</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:613101</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0110925</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hemophagocytic lymphohistiocytosis, familial, type 5</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>familial hemophagocytic lymphohistiocytosis type 5</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C567752</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2200731</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>STXBP2 genetic hemophagocytic lymphohistiocytosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:416514</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>FHL5</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0013135</oboInOwl:id>
        <oboInOwl:hasDbXref>UMLS:C2751293</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/416514"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C567752"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2751293"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0110925"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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#rare"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/613101"/>
        <ns5:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0013135"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015541 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015541">
        <rdfs:label>hereditary hemophagocytic lymphohistiocytosis</rdfs:label>
    </Class>
</rdf:RDF>



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



