<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/DOID?iri=http://purl.obolibrary.org/obo/DOID_0050558"?>
<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:ns4="http://purl.obolibrary.org/obo/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/">
    


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

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/IDO_0000664 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/IDO_0000664">
        <rdfs:label>has material basis in</rdfs:label>
    </ObjectProperty>
    


    <!-- http://purl.obolibrary.org/obo/RO_0002452 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002452">
        <rdfs:label>has symptom</rdfs:label>
    </ObjectProperty>
    


    <!-- http://purl.obolibrary.org/obo/RO_0004019 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004019">
        <rdfs:label>disease has basis in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/DOID_0050557 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0050557">
        <rdfs:label xml:lang="en">congenital muscular dystrophy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0050558 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0050558">
        <rdfs:label xml:lang="en">Ullrich congenital muscular dystrophy</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0050557"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0050736"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0050737"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004019"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0001197"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/IDO_0000664"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GENO_0000147"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/IDO_0000664"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GENO_0000148"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0002452"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SYMP_0000094"/>
            </Restriction>
        </rdfs:subClassOf>
        <oboInOwl:hasDbXref>GARD:4769</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ORDO:75840</oboInOwl:hasDbXref>
        <ns4:IAO_0000115 xml:lang="en">A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes.</ns4:IAO_0000115>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <oboInOwl:id>DOID:0050558</oboInOwl:id>
        <oboInOwl:hasExactSynonym xml:lang="en">ULLRICH DISEASE</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">Ullrich scleroatonic muscular dystrophy</oboInOwl:hasExactSynonym>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#DO_rare_slim"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0050736 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0050736">
        <rdfs:label xml:lang="en">autosomal dominant disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0050737 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0050737">
        <rdfs:label xml:lang="en">autosomal recessive disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GENO_0000147 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000147">
        <rdfs:label>autosomal dominant inheritance</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GENO_0000148 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000148">
        <rdfs:label>autosomal recessive inheritance</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0001197 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0001197">
        <rdfs:label>Abnormality of prenatal development or birth</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SYMP_0000094 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SYMP_0000094">
        <rdfs:label>muscle weakness</rdfs:label>
    </Class>
</rdf:RDF>



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



