<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.orpha.net/ORDO/Orphanet_79404"?>
<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://purl.obolibrary.org/obo/MONDO_0006541 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006541">
        <rdfs:label>epidermolysis bullosa</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_183426 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_183426">
        <rdfs:label>Genetic epidermal disorder</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_263676 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_263676">
        <rdfs:label>Hereditary epidermolysis bullosa associated with ocular features</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_79404 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_79404">
        <rdfs:label>Junctional epidermolysis bullosa, Herlitz type</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0006541"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_139027"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_183426"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_263676"/>
        <oboInOwl:hasExactSynonym>Junctional epidermolysis bullosa generalisata gravis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>ICD10:Q81.1</oboInOwl:hasDbXref>
        <ns4:definition_citation>orphanet</ns4:definition_citation>
        <oboInOwl:hasExactSynonym>Junctional epidermolysis bullosa, Herlitz-Pearson type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>JEB-H</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:226700</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Epidermolysis bullosa letalis</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.</ns3:IAO_0000115>
    </Class>
</rdf:RDF>



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



