<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0019287"?>
<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/mondo#"
     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: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#disease_grouping"/>
    <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#curated_content_resource"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <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://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/mondo#disease_has_basis_in_development_of -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of">
        <rdfs:label>disease_has_basis_in_development_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_0019287 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019287">
        <rdfs:label>ectodermal dysplasia syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0021026"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100118"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/UBERON_0000924"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/ectodermal_dysplasia</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>NCIT:C84683</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:757.31</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:8654005</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>ectodermal dysplasia (select examples)</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>ectodermal dysplasia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:2121</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0006317</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:D004476</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0013575</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:79373</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MedDRA:10010452</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>The term &#39;&#39;ectodermal dysplasia&#39;&#39; defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>OMIMPS:305100</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0019287</oboInOwl:id>
        <oboInOwl:hasDbXref>MEDGEN:8544</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:1156567558</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1156567558"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10010452"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/8544"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D004476"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/8654005"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0013575"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_2121"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C84683"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_grouping"/>
        <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_group_of_disorders"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <ns5: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_79373"/>
        <skos:exactMatch rdf:resource="https://omim.org/phenotypicSeries/PS305100"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0021026 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0021026">
        <rdfs:label>hereditary epidermal appendage anomaly</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100118 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100118">
        <rdfs:label>hereditary skin disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/UBERON_0000924 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/UBERON_0000924">
        <rdfs:label>ectoderm</rdfs:label>
    </Class>
</rdf:RDF>



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



