<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.ebi.ac.uk/efo/EFO_0000508"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://www.ebi.ac.uk/efo/"
     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:ns2="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/IAO_0000117"/>
    <AnnotationProperty rdf:about="http://www.ebi.ac.uk/efo/reason_for_obsolescence"/>
    <AnnotationProperty rdf:about="http://www.ebi.ac.uk/efo/obsoleted_in_version"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0100001"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    


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

    


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

    


    <!-- http://www.ebi.ac.uk/efo/EFO_0000508 -->

    <Class rdf:about="http://www.ebi.ac.uk/efo/EFO_0000508">
        <rdfs:label>obsolete_genetic disorder</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.w3.org/2002/07/owl#Thing"/>
        <deprecated rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</deprecated>
        <oboInOwl:hasExactSynonym>hereditary disease</oboInOwl:hasExactSynonym>
        <ns5:reason_for_obsolescence>Replaced by Mondo term MONDO_0003847, with which this term was previously merged. Use: http://purl.obolibrary.org/obo/MONDO_0003847</ns5:reason_for_obsolescence>
        <oboInOwl:hasDbXref>UMLS:C0019247</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIt:C3101</oboInOwl:hasDbXref>
        <ns2:IAO_0000115>A genetic disorder is a disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state. Note, this not imply that the disorder is hereditary since genetic mutations can occur during life time and are not always directly inherited or presented in parents (although they can be).</ns2:IAO_0000115>
        <oboInOwl:hasExactSynonym>genetic disease</oboInOwl:hasExactSynonym>
        <ns2:IAO_0000115>Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders.</ns2:IAO_0000115>
        <ns5:obsoleted_in_version>3.88.0</ns5:obsoleted_in_version>
        <ns2:IAO_0000117>James Malone</ns2:IAO_0000117>
        <oboInOwl:hasDbXref>MESH:D030342</oboInOwl:hasDbXref>
        <ns2:IAO_0100001>http://purl.obolibrary.org/obo/MONDO_0003847</ns2:IAO_0100001>
    </Class>
</rdf:RDF>



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



