<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0008828"?>
<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://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#clingen"/>
    <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/9364 -->

    <Class rdf:about="http://identifiers.org/hgnc/9364">
        <rdfs:label>PRG4</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005554 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005554">
        <rdfs:label>rheumatic disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0006025 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006025">
        <rdfs:label>autosomal recessive disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008828 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008828">
        <rdfs:label>camptodactyly-arthropathy-coxa vara-pericarditis syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005554"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0006025"/>
        <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/9364"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/camptodactyly_arthropathy_coxa_vara_pericarditis_syndrome</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>MEDGEN:349226</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>camptodactyly-arthropathy-coxa-vara-pericarditis syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>pericarditis arthropathy camptodactyly syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>PAC syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Jacobs syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0090127</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>CACP syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>pericarditis-arthropathy-camptodactyly syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0000306</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>EFO:0009028</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>arthropathy-camptodactyly syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>camptodactyly arthropathy pericarditis syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:208250</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C537560</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:2848</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>camptodactyly-arthropathy-coxa vara-pericarditis syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C1859690</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>camptodactyly arthropathy coxa vara pericarditis syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>CACP</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>arthropathy camptodactyly syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0008828</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>fibrosing serositis, familial</oboInOwl:hasRelatedSynonym>
        <ns4:IAO_0000115>Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>camptodactyly-arthropathy-pericarditis syndrome</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/349226"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537560"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1859690"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0090127"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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.ebi.ac.uk/efo/EFO_0009028"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_2848"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/208250"/>
        <ns5:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0008828"/>
    </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 -->



