<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/KTAO?iri=http://purl.obolibrary.org/obo/MONDO_0008073"?>
<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:dcterms="http://purl.org/dc/terms/"
     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.org/dc/terms/conformsTo"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000412"/>
    <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://www.geneontology.org/formats/oboInOwl#hasBroadSynonym"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#closeMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0004020 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004020">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">disease has basis in dysfunction of</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/12559 -->

    <Class rdf:about="http://identifiers.org/hgnc/12559">
        <rdfs:label>UMOD</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000608 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000608">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">familial juvenile hyperuricemic nephropathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008073 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008073">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">familial juvenile hyperuricemic nephropathy type 1</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0000608"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004020"/>
                        <someValuesFrom rdf:resource="http://identifiers.org/hgnc/12559"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000608"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019236"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019741"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004020"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/12559"/>
            </Restriction>
        </rdfs:subClassOf>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">FJHN type 1</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">GARD:0006806</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">HNFJ1</oboInOwl:hasExactSynonym>
        <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MONDO:0008073</oboInOwl:id>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">OMIM:162000</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Orphanet:209886</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UMLS:CN239214</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UMOD familial juvenile hyperuricemic nephropathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UMOD-associated FJHN</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UMOD-associated familial juvenile hyperuricemic nephropathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UMOD-related kidney disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">familial juvenile gouty nephropathy</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">familial juvenile hyperuricaemic nephropathy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">familial juvenile hyperuricemic nephropathy caused by mutation in UMOD</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">familial nephropathy with gout</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasBroadSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">gouty nephropathy, familial juvenile</oboInOwl:hasBroadSynonym>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy</rdfs:seeAlso>
        <oboInOwl:hasBroadSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">hyperuricemic nephropathy, familial juvenile</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">hyperuricemic nephropathy, familial juvenile 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">hyperuricemic nephropathy, familial juvenile, 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">hyperuricemic nephropathy, familial juvenile, type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">nephropathy, familial, with gout</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">uromodulin storage disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">uromodulin-associated kidney disease</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/omim/162000"/>
        <skos:closeMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0268113"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/CN239214"/>
        <oboInOwl:inSubset rdf:resource="http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_disease"/>
        <oboInOwl:inSubset rdf:resource="http://purl.oboInOwllibrary.org/oboInOwl/mondo#prototype_pattern"/>
        <ns4:IAO_0000412 rdf:resource="http://purl.obolibrary.org/obo/mondo.owl"/>
        <dcterms:conformsTo rdf:resource="http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_209886"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019236 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019236">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">inborn disorder of purine metabolism</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019741 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019741">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">familial cystic renal disease</rdfs:label>
    </Class>
</rdf:RDF>



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



