<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0009760"?>
<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:ORDO="http://www.orpha.net/ORDO/"
     xmlns:ns4="http://purl.obolibrary.org/obo/mondo#"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/">
    


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

    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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.geneontology.org/formats/oboInOwl#inSubset"/>
    <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"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009760 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009760">
        <rdfs:label>Norman-Roberts syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015204"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019313"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0043218"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns3:IAO_0000233>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6878</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/lissencephaly_2</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>Norman-Roberts syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0060902</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0009760</oboInOwl:id>
        <ns3:IAO_0000115>Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.</ns3:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>LIS2</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:89844</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0796089</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:164166454</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0016780</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:163213</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>lissencephaly 2 (Norman-Roberts type)</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>lissencephaly 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Norman Roberts lissencephaly syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>lissencephaly syndrome, Norman-Roberts type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>lissencephaly syndrome Norman-Roberts type</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:717977003</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Microlissencephaly type A</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:257320</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/164166454"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/163213"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/717977003"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0796089"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0060902"/>
        <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_subtype_of_a_disorder"/>
        <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_89844"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/257320"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015204 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015204">
        <rdfs:label>microlissencephaly</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019313 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019313">
        <rdfs:label>lymphatic malformation</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0043218 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0043218">
        <rdfs:label>neurovascular disorder</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_89844 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_89844">
        <rdfs:label>Lissencephaly syndrome, Norman-Roberts type</rdfs:label>
    </Class>
</rdf:RDF>



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



