<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0015951"?>
<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:skos="http://www.w3.org/2004/02/skos/core#"
     xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ORDO="http://www.orpha.net/ORDO/"
     xmlns:ns4="http://purl.obolibrary.org/obo/mondo#"
     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/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#inSubset"/>
    <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#hasBroadSynonym"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015951 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015951">
        <rdfs:label>hereditary photodermatosis</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100118"/>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/genetic_photodermatosis</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>genetic skin photosensitivity</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym>photogenodermatosis</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>UMLS:C5679594</oboInOwl:hasDbXref>
        <oboInOwl:hasBroadSynonym>photogénodermatose</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>MEDGEN:1842494</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>GARD:0020277</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0015951</oboInOwl:id>
        <oboInOwl:hasExactSynonym>genetic photosensitivity</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:183490</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1842494"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C5679594"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_grouping"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#mondo_curated_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders"/>
        <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_183490"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100118 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100118">
        <rdfs:label>hereditary skin disorder</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_183490 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_183490">
        <rdfs:label>Genetic photodermatosis</rdfs:label>
    </Class>
</rdf:RDF>



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



