<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0011558"?>
<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#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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0011558 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011558">
        <rdfs:label>Usher syndrome type 2C</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016484"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns3:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/8497/usher-syndrome-type-2c</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/usher_syndrome_type_iic</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>USH2C</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Usher syndrome, type IIb</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>Usher syndrome, type 2C</oboInOwl:hasRelatedSynonym>
        <ns3:IAO_0000115>A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>DOID:0110839</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:605472</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Usher syndrome, type IIc, Gpr98/Pdzd7, digenic</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>USHER syndrome, type IIC</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Usher syndrome, type 2C, autosomal recessive, digenic dominant</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C536492</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C2931213</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:419359</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Usher syndrome, type IIb, formerly</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0011558</oboInOwl:id>
        <oboInOwl:hasDbXref>NCIT:C153174</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0008497</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/419359"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C536492"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2931213"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0110839"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C153174"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ncit_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/605472"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016484 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016484">
        <rdfs:label>Usher syndrome type 2</rdfs:label>
    </Class>
</rdf:RDF>



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



