<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0011462"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://purl.obolibrary.org/obo/mondo#"
     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/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
    <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://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym"/>
    <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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#doid_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#orphanet_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"/>
    


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

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/9580 -->

    <Class rdf:about="http://identifiers.org/hgnc/9580">
        <rdfs:label>PSTPIP1</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005046 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005046">
        <rdfs:label>immune system disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0011462 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011462">
        <rdfs:label>pyogenic arthritis-pyoderma gangrenosum-acne syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005046"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019751"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0023603"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/9580"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6747</ns4:IAO_0000233>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/pyogenic_sterile_arthritis_pyoderma_gangrenosum_and_acne</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>NANDO:1200868</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>PAPA</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C1858361</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:346801</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2200437</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>fra</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:604416</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C536253</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>familial recurrent arthritis</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>DOID:0080519</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C119055</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0009176</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>pyogenic STERILE arthritis, pyoderma gangrenosum, and acne</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>Papas</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>FRA</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>papa syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:724015007</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0011462</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>pyogenic arthritis, pyoderma gangrenosum and acne</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>papa</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:69126</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/346801"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C536253"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/724015007"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1858361"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0080519"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C119055"/>
        <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#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_69126"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/604416"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019751 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019751">
        <rdfs:label>autoinflammatory syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0023603 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0023603">
        <rdfs:label>hereditary disorder of connective tissue</rdfs:label>
    </Class>
</rdf:RDF>



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



