<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0017139"?>
<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#disease_grouping"/>
    <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/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders"/>
    <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://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_0003847 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0003847">
        <rdfs:label>hereditary disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015498 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015498">
        <rdfs:label>oromandibular-limb anomalies syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0017139 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017139">
        <rdfs:label>oromandibular-limb hypogenesis syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0003847"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015498"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6877</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/oromandibular_limb_hypogenesis_syndrome</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>UMLS:C5679764</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0017139</oboInOwl:id>
        <oboInOwl:hasDbXref>Orphanet:2749</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Oroacral syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:1843329</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0004116</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>oro-mandibular-limb hypogenesis syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:1665391511</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).</ns3:IAO_0000115>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1665391511"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1843329"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C5679764"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_grouping"/>
        <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_group_of_disorders"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_2749"/>
    </Class>
</rdf:RDF>



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



