<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0007100"?>
<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: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://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://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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#should_conform_to"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007100 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007100">
        <rdfs:label>familial amyloid neuropathy</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018634"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020127"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/7330</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/amyloidosis_hereditary_systemic_1</ns4:curated_content_resource>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hereditary_transthyretin_amyloidosis</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>hereditary TTR amyloid polyneuropathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>familial amyloid polyneuropathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0050761</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200214</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>amyloid neuropathies, familial</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>hereditary TTR amyloidosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>familial transthyretin-related amyloidosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0021017</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>familial amyloid neuropathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NCIT:C84554</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hereditary transthyretin amyloid polyneuropathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>hATTR</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>EFO:0004129</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C567782</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0206245</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:277.39</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>ATTRv amyloidosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:104815</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>familial TTR-related amyloidosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:271861</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:807065795</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0050638</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1201060</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIMPS:105210</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:42295001</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>paramyloidosis</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0007100</oboInOwl:id>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/807065795"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/104815"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C567782"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/42295001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0206245"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050638"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C84554"/>
        <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"/>
        <ns4:should_conform_to rdf:resource="http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"/>
        <skos:exactMatch rdf:resource="http://www.ebi.ac.uk/efo/EFO_0004129"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_271861"/>
        <skos:exactMatch rdf:resource="https://omim.org/phenotypicSeries/PS105210"/>
    </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 -->



