<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0013559"?>
<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://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_0013559 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0013559">
        <rdfs:label>Hermansky-Pudlak syndrome 7</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019312"/>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hermansky_pudlak_syndrome_7</ns4:curated_content_resource>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hermansky_pudlak_syndrome_due_to_bloc_1_deficiency</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>Hermansky-Pudlak syndrome type 7</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0013559</oboInOwl:id>
        <oboInOwl:hasDbXref>OMIM:614076</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0060545</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>DTNBP1 Hermansky-Pudlak syndrome</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>MEDGEN:481386</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>HPS7</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:231531</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Hermansky-Pudlak syndrome caused by mutation in DTNBP1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C3279756</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Hermansky-Pudlak syndrome 7</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0018336</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/481386"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C3279756"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0060545"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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_subtype_of_a_disorder"/>
        <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_231531"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/614076"/>
        <ns4:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0013559"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019312 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019312">
        <rdfs:label>Hermansky-Pudlak syndrome</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_231531 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_231531">
        <rdfs:label>Hermansky-Pudlak syndrome type 7</rdfs:label>
    </Class>
</rdf:RDF>



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



