<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.ebi.ac.uk/efo/EFO_0020039"?>
<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:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/"
     xmlns:efo="http://www.ebi.ac.uk/efo/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/date"/>
    <AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/creator"/>
    


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

    


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

    


    <!-- http://www.ebi.ac.uk/efo/EFO_0020039 -->

    <Class rdf:about="http://www.ebi.ac.uk/efo/EFO_0020039">
        <rdfs:label xml:lang="en">neuronal ceroid-lipofuscinosis, dominant/recessive</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_183500"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_68366"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_98666"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_98713"/>
        <dc:date rdf:datatype="http://www.w3.org/2001/XMLSchema#dateTime">2021-11-02T13:26:06Z</dc:date>
        <dc:creator>zmp</dc:creator>
        <ns3:IAO_0000115>Neuronal ceroid lipofuscinoses (NCLs) are a group of dominant/recessive inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>Medgen:CN239251</oboInOwl:hasDbXref>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_183500 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_183500">
        <rdfs:label>Genetic neurodegenerative disease</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_68366 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_68366">
        <rdfs:label>Lysosomal disease</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_98666 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_98666">
        <rdfs:label>Unclassified primitive or secondary maculopathy</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_98713 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_98713">
        <rdfs:label>Metabolic disease with pigmentary retinitis</rdfs:label>
    </Class>
</rdf:RDF>



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



