<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.orpha.net/ORDO/Orphanet_238468"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://www.ebi.ac.uk/efo/"
     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:ORDO="http://www.orpha.net/ORDO/"
     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/IAO_0100001"/>
    <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.ebi.ac.uk/efo/reason_for_obsolescence"/>
    <AnnotationProperty rdf:about="http://www.ebi.ac.uk/efo/obsoleted_in_version"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#closeMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://www.orpha.net/ORDO/Orphanet_238468 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_238468">
        <rdfs:label>obsolete_Hypohidrotic ectodermal dysplasia</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.w3.org/2002/07/owl#Thing"/>
        <deprecated rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</deprecated>
        <oboInOwl:hasExactSynonym>ectodermal dysplasia 1, Anhydrotic</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:14793</oboInOwl:hasDbXref>
        <ns5:reason_for_obsolescence>Replaced with Mondo term.</ns5:reason_for_obsolescence>
        <oboInOwl:hasExactSynonym>hypohidrotic X-linked ectodermal dysplasia</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>Hypohidrotic ectodermal dysplasia (HED) is 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:hasRelatedSynonym>CST syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0000076</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:239007005</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>ectodermal dysplasia, hypohidrotic</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NCIT:C84562</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:hasDbXref>ICD10:Q82.4</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>anhidrotic ectodermal dysplasia 3</oboInOwl:hasExactSynonym>
        <ns5:obsoleted_in_version>3.41.0</ns5:obsoleted_in_version>
        <oboInOwl:hasDbXref>Orphanet:238468</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>anhidrotic ectodermal dysplasia 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>HP:0007607</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>EDA</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>hypohidrotic ectodermal dysplasia</oboInOwl:hasExactSynonym>
        <ns4:IAO_0100001>http://purl.obolibrary.org/obo/MONDO_0016535</ns4:IAO_0100001>
        <oboInOwl:hasRelatedSynonym>ectodermal dysplasia anhidrotic</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>anhidrotic ectodermal dysplasia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>HED</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/239007005"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/snomedct/4826006"/>
        <skos:closeMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1706004"/>
        <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#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_disease"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_238468"/>
    </Class>
</rdf:RDF>



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



