<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0013361"?>
<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://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#doid_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym"/>
    <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_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/3535 -->

    <Class rdf:about="http://identifiers.org/hgnc/3535">
        <rdfs:label>F2</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0006025 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006025">
        <rdfs:label>autosomal recessive disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0013361 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0013361">
        <rdfs:label>congenital prothrombin deficiency</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0024307"/>
                    <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_0006025"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015722"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0024307"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/3535"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4069</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns4:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/2235/factor-2-deficiency</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/prothrombin_deficiency</ns5:curated_content_resource>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/prothrombin_deficiency_congenital</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>DOID:2235</oboInOwl:hasDbXref>
        <oboInOwl:hasBroadSynonym>prothrombin deficiency</oboInOwl:hasBroadSynonym>
        <oboInOwl:id>MONDO:0013361</oboInOwl:id>
        <oboInOwl:hasDbXref>Orphanet:325</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:613679</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>NCIT:C131737</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hereditary prothrombin deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0002926</oboInOwl:hasDbXref>
        <oboInOwl:hasBroadSynonym>factor 2 deficiency</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>UMLS:C0272317</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2200673</oboInOwl:hasDbXref>
        <oboInOwl:hasBroadSynonym>factor II deficiency</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasBroadSynonym>hypoprothrombinemia</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>MESH:D007020</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>congenital prothrombin deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Dysprothrombinemia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:73975000</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:286.3</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:124425</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/124425"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D007020"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/73975000"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0272317"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_2235"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C131737"/>
        <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_325"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/613679"/>
        <ns5:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0013361"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015722 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015722">
        <rdfs:label>congenital vitamin K-dependent coagulation factors deficiency</rdfs:label>
    </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_0024307 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0024307">
        <rdfs:label>prothrombin deficiency</rdfs:label>
    </Class>
</rdf:RDF>



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



