<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/DOID?iri=http://purl.obolibrary.org/obo/DOID_0081122"?>
<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:doid="http://purl.obolibrary.org/obo/doid#"
     xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     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://www.geneontology.org/formats/oboInOwl#hasOBONamespace"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/doid#DO_rare_slim">
        <rdfs:label>DO_rare_slim</rdfs:label>
    </AnnotationProperty>
    <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#inSubset"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/DOID_0080001 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0080001">
        <rdfs:label xml:lang="en">bone disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0081122 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0081122">
        <rdfs:label xml:lang="en">Catel Manzke syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0080001"/>
        <oboInOwl:hasDbXref>GARD:28</oboInOwl:hasDbXref>
        <ns3:IAO_0000115 xml:lang="en">A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.</ns3:IAO_0000115>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <oboInOwl:hasDbXref>ORDO:1388</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MIM:616145</oboInOwl:hasDbXref>
        <oboInOwl:id>DOID:0081122</oboInOwl:id>
        <oboInOwl:hasExactSynonym xml:lang="en">Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C535347</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym xml:lang="en">Micrognathia digital syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#DO_rare_slim"/>
    </Class>
</rdf:RDF>



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



