<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0012604"?>
<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://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#doid_rare"/>
    <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/18662 -->

    <Class rdf:about="http://identifiers.org/hgnc/18662">
        <rdfs:label>RAX</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000062 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000062">
        <rdfs:label>isolated microphthalmia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0012604 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0012604">
        <rdfs:label>isolated microphthalmia 3</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0000062"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                        <someValuesFrom rdf:resource="http://identifiers.org/hgnc/18662"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000062"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016764"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/18662"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/isolated_microphthalmia_3</ns5:curated_content_resource>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/microphthalmia_syndromic_16</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>RAX isolated microphthalmia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>MCOP3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0024876</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>rax isolated microphthalmia</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>OMIM:611038</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C567025</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>isolated microphthalmia caused by mutation in RAX</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>microphthalmia, isolated 3</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0012604</oboInOwl:id>
        <oboInOwl:hasDbXref>MEDGEN:1823955</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>isolated microphthalmia type 3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>microphthalmia, isolated type 3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>isolated microphthalmia 3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C5774181</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0060842</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>isolated microphthalmia caused by mutation in rax</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1823955"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C567025"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C5774181"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0060842"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#doid_rare"/>
        <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/611038"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016764 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016764">
        <rdfs:label>isolated anophthalmia-microphthalmia syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



