<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/KTAO?iri=http://purl.obolibrary.org/obo/MONDO_0020726"?>
<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://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/7508 -->

    <Class rdf:about="http://identifiers.org/hgnc/7508">
        <rdfs:label>MUC1</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008264 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008264">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">autosomal dominant medullary cystic kidney disease with or without hyperuricemia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020726 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020726">
        <rdfs:label rdf:datatype="http://www.w3.org/2001/XMLSchema#string">medullary cystic kidney disease 1</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0008264"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004020"/>
                        <someValuesFrom rdf:resource="http://identifiers.org/hgnc/7508"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0008264"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004020"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/7508"/>
            </Restriction>
        </rdfs:subClassOf>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ADMCKD1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ADTKD-MUC1</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">GARD:0007002</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ICD10:Q61.5</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MCKD1</oboInOwl:hasExactSynonym>
        <oboInOwl:id rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MONDO:0020726</oboInOwl:id>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MUC1-related autosomal dominant medullary cystic kidney disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MUC1-related autosomal dominant tubulointerstitial kidney disease</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MUCI-related ADTKD</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Mckd</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">NCIT:C123171</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">OMIM:174000</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Orphanet:88949</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UMLS:C1868139</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UMLS:CN206321</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">autosomal dominant medullary cystic kidney disease without hyperuricemia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1</oboInOwl:hasExactSynonym>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#string">https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations</rdfs:seeAlso>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">medullary cystic kidney disease 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">medullary cystic kidney disease type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">medullary cystic kidney disease, autosomal dominant</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym rdf:datatype="http://www.w3.org/2001/XMLSchema#string">polycystic kidneys, medullary type</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/omim/174000"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1868139"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/CN206321"/>
        <oboInOwl:inSubset rdf:resource="http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_clinical_subtype"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C123171"/>
        <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_88949"/>
    </Class>
</rdf:RDF>



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



