<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010165"?>
<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://purl.obolibrary.org/obo/mondo#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_0010165 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010165">
        <rdfs:label>ulna hypoplasia-intellectual disability syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0003847"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018234"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019054"/>
        <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/ulna_hypoplasia_intellectual_disability_syndrome</ns4:curated_content_resource>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/ulnar_hypoplasia_with_impaired_intellectual_development</ns4:curated_content_resource>
        <oboInOwl:id>MONDO:0010165</oboInOwl:id>
        <oboInOwl:hasDbXref>MEDGEN:341275</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>ulnar hypoplasia with mental retardation</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:2249</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>bilateral ulnar hypoplasia and intellectual disability</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>bilateral ulnar hypoplasia and mental retardation</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C564757</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation</oboInOwl:hasRelatedSynonym>
        <ns3:IAO_0000115>Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.</ns3:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>ulna hypoplasia with intellectual disability</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>ulnar hypoplasia with intellectual disability</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>ulna hypoplasia with mental retardation</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0005398</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:276821</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1848650</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/341275"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C564757"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1848650"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_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_2249"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/276821"/>
    </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>
</rdf:RDF>



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



