<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010172"?>
<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://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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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

    


    <!-- http://purl.obolibrary.org/obo/mondo#disease_shares_features_of -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/mondo#disease_shares_features_of">
        <rdfs:label>disease shares features of</rdfs:label>
    </ObjectProperty>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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_0008642 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008642">
        <rdfs:label>VACTERL/vater association</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010172 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010172">
        <rdfs:label>VACTERL with hydrocephalus</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_shares_features_of"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0008642"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/vacterl_association_with_hydrocephalus</ns3:curated_content_resource>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/vacterl_with_hydrocephalus</ns3:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:3412</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Sujansky-Leonard syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:1646268729</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0000272</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:276950</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Vater association with macrocephaly and ventriculomegaly</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0010172</oboInOwl:id>
        <oboInOwl:hasDbXref>MEDGEN:376400</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>VACTERL hydrocephaly</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>Vater association with hydrocephalus</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>VACTERL association with hydrocephalus</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>VACTERL association with hydrocephaly</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C1848599</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.</ns5:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>VACTERL-H</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1646268729"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/376400"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1848599"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015159"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015246"/>
        <ns3: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_3412"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/276950"/>
    </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_0015246 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015246">
        <rdfs:label>obsolete syndromic anorectal malformation</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 -->



