<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.orpha.net/ORDO/Orphanet_79402"?>
<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_79402 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_79402">
        <rdfs:label>Generalized junctional epidermolysis bullosa, non-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"/>
        <oboInOwl:hasExactSynonym>GABEB</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Junctional epidermolysis bullosa generalisata mitis</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>Junctional epidermolysis bullosa, Disentis type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>ICD10:Q81.8</oboInOwl:hasDbXref>
        <ns4:definition_citation>orphanet</ns4:definition_citation>
        <oboInOwl:hasDbXref>OMIM:226650</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Generalized atrophic benign epidermolysis bullosa</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>JEB-nH gen</oboInOwl:hasExactSynonym>
    </Class>
</rdf:RDF>



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



