<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0007097"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns6="http://purl.obolibrary.org/obo/"
     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/mondo#"
     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://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/4620 -->

    <Class rdf:about="http://identifiers.org/hgnc/4620">
        <rdfs:label>GSN</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007097 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007097">
        <rdfs:label>Finnish type amyloidosis</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018102"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018634"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020127"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/4620"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns6:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6878</ns6:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/amyloidosis_finnish_type</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>MEDGEN:301243</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C537459</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>amyloidosis V</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>lattice corneal dystrophy type II Finnish</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>meretoja syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>hereditary amyloidosis, Finnish type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0002339</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0050637</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>familial amyloid polyneuropathy type IV</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:419398009</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1622345</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1201063</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>familial amyloidosis, Finnish type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>amyloidosis, MERETOJA type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>ICD9:277.39</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>gelsolin amyloidosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:105120</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:85448</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0007097</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>hereditary gelsolin amyloidosis</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/301243"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537459"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/419398009"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1622345"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050637"/>
        <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_85448"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/105120"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018102 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018102">
        <rdfs:label>corneal dystrophy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018634 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018634">
        <rdfs:label>hereditary amyloidosis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020127 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020127">
        <rdfs:label>hereditary peripheral neuropathy</rdfs:label>
    </Class>
</rdf:RDF>



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



