<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010538"?>
<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#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://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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010538 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010538">
        <rdfs:label>Mononen-Karnes-Senac syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019054"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/4886/brachydactyly-mononen-type</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/brachydactyly_mononen_type_2</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>skeletal dysplasia-brachydactyly syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>skeletal dysplasia brachydactyly</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:336815</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>UMLS:C1844919</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>thumbs and great toes short and abducted</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>Mononen Karnes Senac syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0010538</oboInOwl:id>
        <oboInOwl:hasDbXref>MESH:C535914</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:2565</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:733095006</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0110973</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>brachydactyly Mononen type</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:301940</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0004886</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/336815"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C535914"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/733095006"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1844919"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0110973"/>
        <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#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#rare"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_2565"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/301940"/>
    </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>
</rdf:RDF>



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



