<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0015780"?>
<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/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.w3.org/2004/02/skos/core#closeMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#should_conform_to"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0004029 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004029">
        <rdfs:label>disease has feature</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/HP_0000953 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0000953">
        <rdfs:label>Hyperpigmentation of the skin</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0001903 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0001903">
        <rdfs:label>Anemia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0002721 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0002721">
        <rdfs:label>Immunodeficiency</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0010566 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0010566">
        <rdfs:label>Hamartoma</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0001713 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0001713">
        <rdfs:label>inherited aplastic anemia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015356 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015356">
        <rdfs:label>hereditary neoplastic syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015780 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015780">
        <rdfs:label>dyskeratosis congenita</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015356"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019287"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0010566"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0001903"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0000953"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0002721"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9285</ns5:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked</rdfs:seeAlso>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/dyskeratosis_congenita</ns3:curated_content_resource>
        <oboInOwl:hasDbXref>NANDO:2200715</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1071</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:74911008</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:2729</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:78580</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:D019871</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>DC</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:1775</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>GARD:0010905</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Zinsser-Engman-Cole syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MedDRA:10062759</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200342</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200304</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Zinsser Cole Engman syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:1531033936</oboInOwl:hasDbXref>
        <rdfs:comment>Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist</rdfs:comment>
        <oboInOwl:id>MONDO:0015780</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>Hoyeraal-Hreidarsson syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NCIT:C111802</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIMPS:127550</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>dyskeratosis congenita</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C0265965</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>DKC</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1531033936"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10062759"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/78580"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D019871"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/74911008"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0265965"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_2729"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0001713"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016382"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018035"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019289"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020063"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020119"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020195"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020204"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C111802"/>
        <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#nord_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
        <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"/>
        <ns3:should_conform_to rdf:resource="http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_1775"/>
        <skos:exactMatch rdf:resource="https://omim.org/phenotypicSeries/PS127550"/>
        <ns3:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0015780"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016382 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016382">
        <rdfs:label>hereditary poikiloderma</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018035 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018035">
        <rdfs:label>obsolete syndrome with combined immunodeficiency</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019287 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019287">
        <rdfs:label>ectodermal dysplasia syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019289 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019289">
        <rdfs:label>hyperpigmentation of the skin</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020063 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020063">
        <rdfs:label>obsolete malformation syndrome with hamartosis</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>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020195 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020195">
        <rdfs:label>obsolete excretory apparatus of the lacrimal system anomaly</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020204 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020204">
        <rdfs:label>conjunctival tumor</rdfs:label>
    </Class>
</rdf:RDF>



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



