<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0011396"?>
<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:ORDO="http://www.orpha.net/ORDO/"
     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://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000233"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0011396 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011396">
        <rdfs:label>loricrin keratoderma</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0017666"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/2114</ns3:IAO_0000233>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6749</ns3:IAO_0000233>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6877</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/vohwinkel_syndrome_variant_form</ns4:curated_content_resource>
        <oboInOwl:id>MONDO:0011396</oboInOwl:id>
        <oboInOwl:hasDbXref>MESH:C565826</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:395099</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>keratoderma hereditarium mutilans with ichthyosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>loricrin keratoderma</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Vohwinkel syndrome with ichthyosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:717183001</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0016719</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C1858805</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:604117</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Camisa disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:79395</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/395099"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C565826"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/717183001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1858805"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_79395"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/604117"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0017666 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017666">
        <rdfs:label>diffuse palmoplantar keratoderma</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_79395 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_79395">
        <rdfs:label>Keratoderma hereditarium mutilans with ichthyosis</rdfs:label>
    </Class>
</rdf:RDF>



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



