<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.orpha.net/ORDO/Orphanet_3109"?>
<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:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ORDO="http://www.orpha.net/ORDO/"
     xmlns:ns4="http://www.ebi.ac.uk/efo/"
     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_0000115"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.ebi.ac.uk/efo/definition_citation"/>
    


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

    


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

    


    <!-- http://www.orpha.net/ORDO/Orphanet_180068 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_180068">
        <rdfs:label>Partial bilateral aplasia of the Müllerian ducts</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_183539 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_183539">
        <rdfs:label>Genetic renal or urinary tract malformation</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_3109 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_3109">
        <rdfs:label>Mayer-Rokitansky-Küster-Hauser syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_180068"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_183539"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_400025"/>
        <ns3:IAO_0000115>Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>MedDRA:10065148</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:277000</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>MRKH syndrome</oboInOwl:hasExactSynonym>
        <ns4:definition_citation>orphanet</ns4:definition_citation>
        <oboInOwl:hasExactSynonym>Rokitansky syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>ICD10:Q51.8</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:601076</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:158330</oboInOwl:hasDbXref>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_400025 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_400025">
        <rdfs:label>Female infertility due to an implantation defect of genetic origin</rdfs:label>
    </Class>
</rdf:RDF>



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



