<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0012354"?>
<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#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.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/18124 -->

    <Class rdf:about="http://identifiers.org/hgnc/18124">
        <rdfs:label>P2RY12</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000009 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000009">
        <rdfs:label>inherited bleeding disorder, platelet-type</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0012354 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0012354">
        <rdfs:label>platelet-type bleeding disorder 8</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000009"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0021181"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/18124"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/bleeding_disorder_platelet_type_8</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>DOID:0060692</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>platelet-type bleeding disorder 8</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0012354</oboInOwl:id>
        <oboInOwl:hasDbXref>GARD:0012478</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:609821</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>BDPLT8</oboInOwl:hasRelatedSynonym>
        <ns4:IAO_0000115>P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.</ns4:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>bleeding disorder, platelet-type 8</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:36355</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:725291001</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2200669</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:344008</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C565220</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1853278</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>bleeding disorder, platelet-type, 8</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/344008"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C565220"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/725291001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1853278"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0060692"/>
        <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#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_36355"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/609821"/>
        <ns5:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0012354"/>
    </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>
</rdf:RDF>



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



