<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.orpha.net/ORDO/Orphanet_228190"?>
<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_156532 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_156532">
        <rdfs:label>Rare syndrome with cardiac malformations</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_228190 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_228190">
        <rdfs:label>Patent ductus arteriosus - bicuspid aortic valve - hand anomalies</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_156532"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_404571"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_404577"/>
        <ns3:IAO_0000115>Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>OMIM:604381</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10:Q87.2</oboInOwl:hasDbXref>
        <ns4:definition_citation>orphanet</ns4:definition_citation>
        <oboInOwl:hasExactSynonym>Patent arterial duct - bicuspid aortic valve - hand anomalies</oboInOwl:hasExactSynonym>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_404571 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_404571">
        <rdfs:label>Dysostosis of genetic origin with limb anomaly as a major feature</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_404577 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_404577">
        <rdfs:label>Genetic syndrome with limb malformations as a major feature</rdfs:label>
    </Class>
</rdf:RDF>



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



