<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0017612"?>
<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: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/mondo#"
     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://purl.obolibrary.org/obo/mondo#disease_grouping"/>
    <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/mondo#curated_content_resource"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders"/>
    <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.geneontology.org/formats/oboInOwl#id"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#doid_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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#should_conform_to"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0017612 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017612">
        <rdfs:label>junctional epidermolysis bullosa</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019276"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/junctional_epidermolysis_bullosa</ns4:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>epidermolysis bullosa hereditaria letalis</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:305</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2201342</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0002152</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200236</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>epidermolysis bullosa atrophicans</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:D016109</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:1501260457</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0017612</oboInOwl:id>
        <oboInOwl:hasExactSynonym>EBJ</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:79855003</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>epidermolysis bullosa, junctional</oboInOwl:hasRelatedSynonym>
        <ns3:IAO_0000115>Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>UMLS:C0079301</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>JEB</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NCIT:C90598</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIMPS:226650</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>junctional epidermolysis bullosa</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:86898</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:3209</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1501260457"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/86898"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D016109"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/79855003"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0079301"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_3209"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C90598"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_grouping"/>
        <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_group_of_disorders"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <ns4:should_conform_to rdf:resource="http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_305"/>
        <skos:exactMatch rdf:resource="https://omim.org/phenotypicSeries/PS226650"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019276 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019276">
        <rdfs:label>inherited epidermolysis bullosa</rdfs:label>
    </Class>
</rdf:RDF>



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



