<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0012901"?>
<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/"
     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:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/mondo#">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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://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://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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#excluded_from_qc_check"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0000053 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0000053">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#InverseFunctionalProperty"/>
        <rdfs:label>has characteristic</rdfs:label>
        <rdfs:label xml:lang="en">has characteristic</rdfs:label>
    </ObjectProperty>
    


    <!-- 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/6371 -->

    <Class rdf:about="http://identifiers.org/hgnc/6371">
        <rdfs:label>KLKB1</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002242 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002242">
        <rdfs:label>coagulation protein disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002243 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002243">
        <rdfs:label>hemorrhagic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0012901 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0012901">
        <rdfs:label>inherited prekallikrein deficiency</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0044744"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0000053"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0021152"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002242"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002243"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0021181"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0044744"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/6371"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns5:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/4477/prekallikrein-deficiency-congenital</rdfs:seeAlso>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/inherited_prekallikrein_deficiency</ns3:curated_content_resource>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/prekallikrein_deficiency</ns3:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>prekallikrein deficiency, congenital</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:612423</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0004477</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0012901</oboInOwl:id>
        <oboInOwl:hasDbXref>MESH:C562725</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:749</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>An instance of prekallikrein deficiency that is caused by an inherited modification of the individual&#39;s genome.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>ICD9:286.9</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hereditary prekallikrein deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>fletcher factor (prekallikrein) deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:2200684</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>congenital prekallikrein deficiency</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C562725"/>
        <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#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"/>
        <ns3:excluded_from_qc_check rdf:resource="http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_749"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/612423"/>
        <ns3:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0012901"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0021152 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0021152">
        <rdfs:label>inherited</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0021181 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0021181">
        <rdfs:label>inherited blood coagulation disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0044744 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0044744">
        <rdfs:label>prekallikrein deficiency</rdfs:label>
    </Class>
</rdf:RDF>



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



