<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0011517"?>
<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://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://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_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/7979 -->

    <Class rdf:about="http://identifiers.org/hgnc/7979">
        <rdfs:label>NR3C2</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0003847 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0003847">
        <rdfs:label>hereditary disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0011517 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011517">
        <rdfs:label>pseudohyperaldosteronism type 2</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0003847"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0024575"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/7979"/>
            </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>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hypertension_early_onset_autosomal_dominant_with_severe_exacerbation_in_pregnancy</ns5:curated_content_resource>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/pseudohyperaldosteronism_type_2</ns5:curated_content_resource>
        <oboInOwl:id>MONDO:0011517</oboInOwl:id>
        <oboInOwl:hasDbXref>SCTID:766937004</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>hypertension due to gain-of-function mutations in the mineralocorticoid receptor</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:88660</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>early-onset hypertension with exacerbation in pregnancy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0019093</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:605115</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:343170</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:538048714</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1854631</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C565359</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/538048714"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/343170"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C565359"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/766937004"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1854631"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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_88660"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/605115"/>
        <ns5:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0011517"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0024575 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0024575">
        <rdfs:label>pregnancy disorder</rdfs:label>
    </Class>
</rdf:RDF>



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



