<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010754"?>
<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/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://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#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://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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_0010754 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010754">
        <rdfs:label>van den Bosch syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome</rdfs:seeAlso>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/van_den_bosch_syndrome</ns2:curated_content_resource>
        <oboInOwl:hasDbXref>Orphanet:3417</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>van den Bosch syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:162920</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:733110004</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C563129</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0005453</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0010754</oboInOwl:id>
        <oboInOwl:hasDbXref>UMLS:C0796192</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>OMIM:314500</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/162920"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C563129"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/733110004"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0796192"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019271"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020119"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_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_3417"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/314500"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019271 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019271">
        <rdfs:label>obsolete acrokeratoderma</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020119 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020119">
        <rdfs:label>X-linked syndromic intellectual disability</rdfs:label>
    </Class>
</rdf:RDF>



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



