<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.orpha.net/ORDO/Orphanet_289560"?>
<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:ORDO="http://www.orpha.net/ORDO/"
     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://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"/>
    <AnnotationProperty rdf:about="http://www.ebi.ac.uk/efo/definition_citation"/>
    


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

    


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

    


    <!-- http://www.orpha.net/ORDO/Orphanet_289560 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_289560">
        <rdfs:label>obsolete_Neurodegeneration with brain iron accumulation due to C19orf12 mutation</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:hasDbXref>OMIM:614298</oboInOwl:hasDbXref>
        <ns5:obsoleted_in_version>3.41.0</ns5:obsoleted_in_version>
        <oboInOwl:hasDbXref>ICD10:G23.0</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>NBIA due to C19orf12 mutation</oboInOwl:hasExactSynonym>
        <ns5:definition_citation>orphanet</ns5:definition_citation>
        <oboInOwl:hasExactSynonym>MPAN</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Neurodegeneration with brain iron accumulation type 5</oboInOwl:hasExactSynonym>
        <ns4:IAO_0100001>http://purl.obolibrary.org/obo/MONDO_0013674</ns4:IAO_0100001>
        <oboInOwl:hasExactSynonym>NBIA5</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>Mitochondrial membrane Protein-Associated Neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>Mitochondrial membrane protein associated neurodegeneration</oboInOwl:hasExactSynonym>
        <ns5:reason_for_obsolescence>Replaced with Mondo term.</ns5:reason_for_obsolescence>
    </Class>
</rdf:RDF>



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



