<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0007273"?>
<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#gard_rare"/>
    <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://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_0000053 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0000053">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#InverseFunctionalProperty"/>
        <rdfs:label>has characteristic</rdfs:label>
        <rdfs:label xml:lang="en">has characteristic</rdfs:label>
    </ObjectProperty>
    


    <!-- 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/10681 -->

    <Class rdf:about="http://identifiers.org/hgnc/10681">
        <rdfs:label>SDHB</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0000006 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0000006">
        <rdfs:label>Autosomal dominant inheritance</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000426 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000426">
        <rdfs:label>autosomal dominant disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000448 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000448">
        <rdfs:label>paraganglioma</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007273 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007273">
        <rdfs:label>pheochromocytoma/paraganglioma syndrome 4</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0015356"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0000053"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0000006"/>
                    </Restriction>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                        <someValuesFrom rdf:resource="http://identifiers.org/hgnc/10681"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000426"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000448"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0017366"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/10681"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9178</ns4:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/10546/paragangliomas-4</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/pheochromocytoma_paraganglioma_syndrome_4</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>SDHB paraganglioma</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>pheochromocytoma, extraadrenal and cervical paraganglioma</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>paragangliomas type 4</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHB gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>SDHB-related tumor predisposition</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>paraganglioma caused by mutation in SDHB</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0007273</oboInOwl:id>
        <oboInOwl:hasExactSynonym>pheochromocytoma/paraganglioma syndrome 4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>PGL4</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:115310</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:349380</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1861848</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0010546</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0061219</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>SDHB-related hereditary paraganglioma-pheochromocytoma syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>paragangliomas 4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>carotid body tumours and multiple extraadrenal Pheochromocytomas</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/349380"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1861848"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0061219"/>
        <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#rare"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/115310"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015356 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015356">
        <rdfs:label>hereditary neoplastic syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0017366 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017366">
        <rdfs:label>hereditary pheochromocytoma-paraganglioma</rdfs:label>
    </Class>
</rdf:RDF>



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



