<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010716"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns6="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:dcterms="http://purl.org/dc/terms/"
     xmlns:skos="http://www.w3.org/2004/02/skos/core#"
     xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     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/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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.org/dc/terms/conformsTo"/>
    <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://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#excluded_from_qc_check"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0000053 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0000053">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#InverseFunctionalProperty"/>
        <rdfs:label>has characteristic</rdfs:label>
        <rdfs:label xml:lang="en">has characteristic</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/HP_0001417 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0001417">
        <rdfs:label>X-linked inheritance</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000425 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000425">
        <rdfs:label>X-linked disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009668 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009668">
        <rdfs:label>lethal multiple pterygium syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010716 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010716">
        <rdfs:label>X-linked lethal multiple pterygium syndrome</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0009668"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0000053"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0001417"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000425"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0009668"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/4573/multiple-pterygium-syndrome-x-linked</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/multiple_pterygium_syndrome_x_linked_2</ns4:curated_content_resource>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/x_linked_lethal_multiple_pterygium_syndrome</ns4:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>multiple pterygium syndrome, X-linked</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>pterygium syndrome, multiple, X-linked</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:763462004</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0004573</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>pterygium syndrome multiple X-linked</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C1839440</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:312150</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>multiple pterygium syndrome X-linked</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C564072</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>lethal multiple pterygium syndrome, X-linked</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0010716</oboInOwl:id>
        <oboInOwl:hasDbXref>Orphanet:79447</oboInOwl:hasDbXref>
        <ns6:IAO_0000115>X-linked form of lethal multiple pterygium syndrome.</ns6:IAO_0000115>
        <oboInOwl:hasDbXref>MEDGEN:374225</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/374225"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C564072"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/763462004"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1839440"/>
        <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_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"/>
        <dcterms:conformsTo rdf:resource="http://purl.obolibrary.org/obo/mondo/patterns/x_linked.yaml"/>
        <ns4:excluded_from_qc_check rdf:resource="http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql"/>
        <ns4:excluded_from_qc_check rdf:resource="http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_79447"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/312150"/>
    </Class>
</rdf:RDF>



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



