<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.orpha.net/ORDO/Orphanet_1071"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     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:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ORDO="http://www.orpha.net/ORDO/"
     xmlns:ns4="http://www.ebi.ac.uk/efo/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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.ebi.ac.uk/efo/definition_citation"/>
    


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

    


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

    


    <!-- http://www.orpha.net/ORDO/Orphanet_1071 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_1071">
        <rdfs:label>Ankyloblepharon - ectodermal defects - cleft lip/palate</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_108987"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_139027"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_156237"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_404574"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_68346"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_98561"/>
        <oboInOwl:hasExactSynonym>Hay-Wells syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:129400</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1785148</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:106260</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>AEC syndrome</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>ICD10:Q82.4</oboInOwl:hasDbXref>
        <ns4:definition_citation>orphanet</ns4:definition_citation>
        <oboInOwl:hasDbXref>MESH:C535289</oboInOwl:hasDbXref>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_108987 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_108987">
        <rdfs:label>Syndromic developmental defect of the eye</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_139027 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_139027">
        <rdfs:label>Malformation syndrome with skin/mucosae involvement</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_156237 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_156237">
        <rdfs:label>Syndrome or malformation associated with head and neck malformations</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_404574 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_404574">
        <rdfs:label>Genetic syndrome with limb reduction defects</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_68346 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_68346">
        <rdfs:label>Rare genetic skin disease</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_98561 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_98561">
        <rdfs:label>Eyelid malformation</rdfs:label>
    </Class>
</rdf:RDF>



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



