<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010945"?>
<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:ns2="http://purl.obolibrary.org/obo/mondo#"
     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#gard_rare"/>
    <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://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#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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#excluded_from_qc_check"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010945 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010945">
        <rdfs:label>retinitis pigmentosa 17</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019200"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/10387/retinitis-pigmentosa-17</rdfs:seeAlso>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/retinitis_pigmentosa_17</ns2:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>RP 17</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:600852</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Any retinitis pigmentosa caused by duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>MEDGEN:322153</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C563437</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0010945</oboInOwl:id>
        <oboInOwl:hasDbXref>DOID:0110404</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0010387</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>RP17</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C1833245</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>retinitis pigmentosa 17</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>CA4 retinitis pigmentosa</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>retinitis pigmentosa type 17</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>retinitis pigmentosa caused by mutation in CA4</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/322153"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C563437"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1833245"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0110404"/>
        <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#rare"/>
        <ns2:excluded_from_qc_check rdf:resource="http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/600852"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019200 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019200">
        <rdfs:label>retinitis pigmentosa</rdfs:label>
    </Class>
</rdf:RDF>



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



