<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0009319"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://purl.obolibrary.org/obo/"
     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:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/mondo#">
    


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

    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#otar"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#excluded_subClassOf"/>
    <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://purl.obolibrary.org/obo/IAO_0000233"/>
    <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://purl.obolibrary.org/obo/mondo#doid_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
    <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"/>
    


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

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/15894 -->

    <Class rdf:about="http://identifiers.org/hgnc/15894">
        <rdfs:label>PANK2</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009319 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009319">
        <rdfs:label>pantothenate kinase-associated neurodegeneration</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018307"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/15894"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9097</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9825</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/neurodegeneration_with_brain_iron_accumulation_1</ns3:curated_content_resource>
        <oboInOwl:hasExactSynonym>neurodegeneration with brain iron accumulation type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0009319</oboInOwl:id>
        <oboInOwl:hasDbXref>MEDGEN:6708</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0018523</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:157850</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>neuroaxonal dystrophy, late infantile</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>ICD9:333.0</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:D006211</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0006564</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>PKAN</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:3981</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>NORD:1550</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C84988</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>pigmentary pallidal degeneration</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>neurodegeneration with brain iron accumulation 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:2200886</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200534</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>NBIA1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym>brain iron accumulation type I syndrome</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>ICD10CM:G23.0</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Hallervorden-Spatz disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>pantothenate kinase-associated neurodegeneration</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:2992000</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Hallervorden-Spatz syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:234200</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/6708"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D006211"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/2992000"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0018523"/>
        <skos:exactMatch rdf:resource="http://purl.bioontology.org/ontology/ICD10CM/G23.0"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_3981"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016987"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#doid_rare"/>
        <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#ordo_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
        <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_157850"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/234200"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016987 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016987">
        <rdfs:label>neuroacanthocytosis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018307 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018307">
        <rdfs:label>neurodegeneration with brain iron accumulation</rdfs:label>
    </Class>
</rdf:RDF>



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



