<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0009221"?>
<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/mondo#ordo_malformation_syndrome"/>
    <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#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.w3.org/2004/02/skos/core#closeMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009221 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009221">
        <rdfs:label>femur-fibula-ulna complex</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018234"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019054"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019713"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns3:IAO_0000233>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6751</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/femur_fibula_ulna_syndrome_2</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>femur-fibula-ulna dysostosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C537918</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:2019</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:347305</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0002286</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1856790</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>FFU complex</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0009221</oboInOwl:id>
        <oboInOwl:hasDbXref>OMIM:228200</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MedDRA:10068448</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:353892894</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>PFFD</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.</ns3:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>femur fibula ulna syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>femur-fibula-ulna syndrome</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/353892894"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10068448"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/347305"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537918"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1856790"/>
        <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#ordo_malformation_syndrome"/>
        <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_2019"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/228200"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018234 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018234">
        <rdfs:label>dysostosis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019054 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019054">
        <rdfs:label>congenital limb malformation</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019713 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019713">
        <rdfs:label>non-syndromic limb reduction defect</rdfs:label>
    </Class>
</rdf:RDF>



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



