<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010193"?>
<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/mondo#ordo_malformation_syndrome"/>
    <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#clingen"/>
    <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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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/3527 -->

    <Class rdf:about="http://identifiers.org/hgnc/3527">
        <rdfs:label>EZH2</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000508 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000508">
        <rdfs:label>syndromic intellectual disability</rdfs:label>
    </Class>
    


    <!-- 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_0010193 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010193">
        <rdfs:label>Weaver syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015159"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018230"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019716"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/3527"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/5588</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6751</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6877</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/weaver_syndrome</ns3:curated_content_resource>
        <oboInOwl:id>MONDO:0010193</oboInOwl:id>
        <oboInOwl:hasDbXref>Orphanet:3447</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GTR:AN0102080</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:14731</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>Weaver like syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>Weaver Smith syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GTR:AN0102079</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:63119004</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>camptodactyly - overgrowth - unusual facies</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NANDO:1200659</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C125599</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Weaver-like syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>WEAVER syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C0265210</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>MESH:C536687</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Weaver-Smith syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>ICD9:759.89</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>EZH2 related overgrowth</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Weaver syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:120511</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:277590</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0007878</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>WVS</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>Weaver Williams syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NANDO:2200957</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:2042913723</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>camptodactyly-overgrowth-unusual facies syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NORD:1839</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/2042913723"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/120511"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C536687"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/63119004"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0265210"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_14731"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000508"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C125599"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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#ordo_malformation_syndrome"/>
        <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_3447"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/277590"/>
        <ns3:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0010193"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015159 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015159">
        <rdfs:label>multiple congenital anomalies/dysmorphic syndrome-intellectual disability</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018230 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018230">
        <rdfs:label>skeletal dysplasia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019716 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019716">
        <rdfs:label>overgrowth syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



