<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0016535"?>
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     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:mondo="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#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/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#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#ncit_rare"/>
    


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    <!-- http://purl.obolibrary.org/obo/RO_0004021 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004021">
        <rdfs:label>disease has basis in disruption of</rdfs:label>
        <rdfs:label>disease caused by disruption of</rdfs:label>
    </ObjectProperty>
    


    <!-- 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
    //
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    <!-- http://purl.obolibrary.org/obo/GO_0007499 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GO_0007499">
        <rdfs:label>ectoderm and mesoderm interaction</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GO_0071696 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GO_0071696">
        <rdfs:label>ectodermal placode development</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0000966 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0000966">
        <rdfs:label>Hypohidrosis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016535 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016535">
        <rdfs:label>hypohidrotic ectodermal dysplasia</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019287"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0021147"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004021"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GO_0071696"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004021"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GO_0007499"/>
            </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_0000966"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4104</ns4:IAO_0000233>
        <oboInOwl:hasExactSynonym>anhidrotic ectodermal dysplasia 1</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0016535</oboInOwl:id>
        <ns4:IAO_0000115>A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>anhidrotic ectodermal dysplasia 3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:1853123</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:238468</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>EDA</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>HP:0007607</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C84562</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2201005</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C5848103</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1272</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:14793</oboInOwl:hasDbXref>
        <rdfs:comment>DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic</rdfs:comment>
        <oboInOwl:hasExactSynonym>ectodermal dysplasia 1, Anhydrotic</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>ectodermal dysplasia, hypohidrotic</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>CST syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0000076</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>ectodermal dysplasia anhidrotic</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>anhidrotic ectodermal dysplasia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>HED</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:673167184</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hypohidrotic X-linked ectodermal dysplasia</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/673167184"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1853123"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C5848103"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_14793"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C84562"/>
        <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#ncit_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"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_238468"/>
    </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_0021147 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0021147">
        <rdfs:label>disorder of development or morphogenesis</rdfs:label>
    </Class>
</rdf:RDF>



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



