<?xml version="1.0"?>
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     xml:base="http://www.w3.org/2002/07/owl"
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     xmlns:owl="http://www.w3.org/2002/07/owl#"
     xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"
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     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
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    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/SCDO_1000288"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/SCDO_0000303"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/SCDO_0000340"/>
    <AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/creator"/>
    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0003303 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0003303">
        <rdfs:label>causes condition</rdfs:label>
    </ObjectProperty>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000196 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/SCDO_1000196">
        <rdfs:label>has contributing genetic variation</rdfs:label>
    </ObjectProperty>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000222 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/SCDO_1000222">
        <rdfs:label>causes molecular phenotype</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/NCIT_C155310 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/NCIT_C155310">
        <rdfs:label>Sickle Cell Disease-SD</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_0000514 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_0000514">
        <rdfs:label>Hemoglobin S</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000007 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000007">
        <rdfs:label>Hemoglobin D</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000039 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000039">
        <rdfs:label>HBB, GLU6VAL</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000048 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000048">
        <rdfs:label>SCD Genotype</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000054 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000054">
        <rdfs:label>Hemoglobin Genotype SD</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000048"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000196"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000111"/>
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            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000196"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000110"/>
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        <rdfs:subClassOf>
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                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0003303"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCIT_C155310"/>
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        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000222"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000007"/>
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                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000115"/>
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        <rdfs:subClassOf>
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                <onProperty rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000222"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SCDO_0000514"/>
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        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
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        <rdfs:subClassOf>
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                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000108"/>
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                <onProperty rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000196"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000112"/>
            </Restriction>
        </rdfs:subClassOf>
        <oboInOwl:hasExactSynonym>Haemoglobin Genotype SD</oboInOwl:hasExactSynonym>
        <ns3:SCDO_1000288>None</ns3:SCDO_1000288>
        <oboInOwl:hasExactSynonym>SD Genotype</oboInOwl:hasExactSynonym>
        <dc:creator>SCDO</dc:creator>
        <ns3:IAO_0000115>Compound heterozygous inheritance of Hb S and Hb D mutations. Hb S occurs from substitution of valine for glutamic acid in the beta-6 position (beta6Glu&gt;Val). Hb D generally results from substitution of glutamic acid for glutamine at beta-121 (beta121Glu&gt;Gln); such as the Hb D-Punjab/Hb D-Los Angeles variants. There are several other Hb D variants, including Hb D-Iband where threonine is substituted by lysine at beta-87 (beta87Thr&gt;Lys) and Hb D-Iran where glutamic acid is substituted by glutamine at beta-22 (beta22Glu&gt;Gln).</ns3:IAO_0000115>
        <ns3:SCDO_0000303>Request inclusion into relevant ontology</ns3:SCDO_0000303>
        <ns3:SCDO_0000340 rdf:resource="https://health.utah.gov/newbornscreening/Disorders/HB/Hb_SD_Disease_SD/FactSheet_Provider_HbSD_En.pdf"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000108 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000108">
        <rdfs:label>HBB, SER9TYR</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000109 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000109">
        <rdfs:label>HBB, GLU121GLN</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000110 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000110">
        <rdfs:label>HBB, GLY16ARG</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000111 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000111">
        <rdfs:label>HBB, ASN19LYS</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000112 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000112">
        <rdfs:label>HBB, GLU22GLN</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000113 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000113">
        <rdfs:label>HBB, GLU22VAL</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000114 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000114">
        <rdfs:label>HBB, THR87LYS</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000115 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000115">
        <rdfs:label>HBB, GLU121ALA</rdfs:label>
    </Class>
</rdf:RDF>



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



