<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010563"?>
<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#ordo_disorder"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#otar"/>
    <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://purl.obolibrary.org/obo/mondo#doid_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#orphanet_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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010563 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010563">
        <rdfs:label>blue cone monochromacy</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018852"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020605"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0021155"/>
        <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/917/blue-cone-monochromatism</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/blue_cone_monochromacy</ns4:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>CBBM</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0010563</oboInOwl:id>
        <oboInOwl:hasExactSynonym>S cone monochromacy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>X-linked incomplete achromatopsia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>X-linked achromatopsia incomplete</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:16</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>BCM</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:303700</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0000917</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0339537</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>atypical X-linked achromatopsia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>colour blindness, blue monocone monochromatic type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>incomplete achromatopsia X-linked</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C536238</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>S cone monochromatism</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>X-chromosome-linked achromatopsia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>colour blindness blue mono cone monochromatic type</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>blue cone monochromacy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>blue cone monochromacy, X-linked recessive</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>color blindness blue mono cone monochromatic type</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>color blindness, blue monocone monochromatic type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>blue cone monochromatism</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>achromatopsia incomplete X-linked</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>DOID:0050679</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:24704003</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:87386</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/87386"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C536238"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/24704003"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0339537"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050679"/>
        <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#ordo_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_16"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/303700"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018852 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018852">
        <rdfs:label>achromatopsia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020605 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020605">
        <rdfs:label>X-linked recessive disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0021155 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0021155">
        <rdfs:label>X-linked cone-rod dystrophy</rdfs:label>
    </Class>
</rdf:RDF>



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



