<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/KTAO?iri=http://purl.obolibrary.org/obo/MONDO_0011346"?>
<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: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/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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/18234 -->

    <Class rdf:about="http://identifiers.org/hgnc/18234">
        <rdfs:label>MOCOS</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0011346 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011346">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">xanthinuria type II</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018106"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004020"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/18234"/>
            </Restriction>
        </rdfs:subClassOf>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">GARD:0005620</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ICD10:E79.8</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MESH:C566358</oboInOwl:hasDbXref>
        <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MONDO:0011346</oboInOwl:id>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">OMIM:603592</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Orphanet:93602</oboInOwl:hasDbXref>
        <ns3:IAO_0000115 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UMLS:C1863688</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">XAN2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">XDH and AOX dual deficiency</oboInOwl:hasExactSynonym>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2</rdfs:seeAlso>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">type 2 xanthinuria</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">type II xanthinuria</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">xanthine dehydrogenase and aldehyde oxidase combined deficiency of</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">xanthine dehydrogenase and aldehyde oxidase, combined deficiency of</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">xanthinuria type 2</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">xanthinuria, type 2</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">xanthinuria, type II</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C566358"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/omim/603592"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1863688"/>
        <oboInOwl:inSubset rdf:resource="http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_etiological_subtype"/>
        <ns3:IAO_0000412 rdf:resource="http://purl.obolibrary.org/obo/mondo.owl"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_93602"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018106 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018106">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">hereditary xanthinuria</rdfs:label>
    </Class>
</rdf:RDF>



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



