<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010912"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://purl.obolibrary.org/obo/mondo#"
     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/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <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://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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/20772 -->

    <Class rdf:about="http://identifiers.org/hgnc/20772">
        <rdfs:label>TUBB3</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007614 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007614">
        <rdfs:label>congenital fibrosis of extraocular muscles</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010912 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010912">
        <rdfs:label>fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0007614"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                        <someValuesFrom rdf:resource="http://identifiers.org/hgnc/20772"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0007614"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100154"/>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/5506</ns4:IAO_0000233>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/congenital_fibrosis_of_the_extraocular_muscles_3a</ns5:curated_content_resource>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/fibrosis_of_extraocular_muscles_congenital_3a_with_or_without_extraocular_involvement</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>MESH:C567572</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C2748801</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0010912</oboInOwl:id>
        <oboInOwl:hasDbXref>DOID:0081017</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>fibrosis of extraocular muscles, congenital, 3A</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>congenital fibrosis of extraocular muscles caused by mutation in TUBB3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:600638</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:412638</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0015321</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>CFEOM3A</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>TUBB3 congenital fibrosis of extraocular muscles</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/412638"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C567572"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2748801"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0081017"/>
        <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#rare"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/600638"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100154 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100154">
        <rdfs:label>TUBB3-related tubulinopathy</rdfs:label>
    </Class>
</rdf:RDF>



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



