<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0019609"?>
<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#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://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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005328 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005328">
        <rdfs:label>eye disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015327 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015327">
        <rdfs:label>developmental anomaly of metabolic origin</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019234 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019234">
        <rdfs:label>peroxisome biogenesis disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019609 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019609">
        <rdfs:label>Zellweger spectrum disorders</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015327"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019234"/>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/2632</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/7693</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/pull/2571/</ns4:IAO_0000233>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/zellweger_syndrome</ns2:curated_content_resource>
        <oboInOwl:hasDbXref>MESH:D015211</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>NANDO:1200760</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:21958</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:905</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0007917</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>ZS</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Zellweger spectrum disorders</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>ZWS</oboInOwl:hasExactSynonym>
        <rdfs:comment>Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61</rdfs:comment>
        <oboInOwl:hasRelatedSynonym>Zellweger leukodystrophy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0019609</oboInOwl:id>
        <oboInOwl:hasExactSynonym>Zellweger syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:772</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10CM:E71.510</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1876</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:912</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>cerebrohepatorenal syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:88469006</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0043459</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C85239</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/21958"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D015211"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/88469006"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0043459"/>
        <skos:exactMatch rdf:resource="http://purl.bioontology.org/ontology/ICD10CM/E71.510"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_905"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005328"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019743"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C85239"/>
        <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#ncit_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_772"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_912"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019743 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019743">
        <rdfs:label>obsolete nephropathy secondary to a storage or other metabolic disease</rdfs:label>
    </Class>
</rdf:RDF>



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



