<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0007452"?>
<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#gard_rare"/>
    <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://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://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/5024 -->

    <Class rdf:about="http://identifiers.org/hgnc/5024">
        <rdfs:label>HNF4A</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007452 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007452">
        <rdfs:label>maturity-onset diabetes of the young type 1</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018911"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/5024"/>
            </Restriction>
        </rdfs:subClassOf>
        <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/3418/maturity-onset-diabetes-of-the-young-type-1</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/maturity_onset_diabetes_of_the_young_type_1</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>MEDGEN:377589</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:609562003</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0003418</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>mild juvenile diabetes mellitus</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>maturity-onset diabetes of the young, type 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>MODY1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>MODY, type I</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>maturity onset diabetes of the Young, type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:2200461</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1852093</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C565101</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>type 1 maturity-onset diabetes of the young</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>diabetes mellitus MODY type 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:125850</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>MODY HNF4A related</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NCIT:C129744</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0111099</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2201069</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>HNF4A-associated monogenic diabetes</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0007452</oboInOwl:id>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/377589"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C565101"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/609562003"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1852093"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0111099"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C129744"/>
        <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#rare"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/125850"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018911 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018911">
        <rdfs:label>maturity-onset diabetes of the young</rdfs:label>
    </Class>
</rdf:RDF>



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



