<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/SCDO?iri=http://purl.obolibrary.org/obo/SCDO_1000056"?>
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     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:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     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/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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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

    


    <!-- 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_1000039 -->

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


    <!-- http://purl.obolibrary.org/obo/SCDO_1000044 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000044">
        <rdfs:label>HBB, ASP73ASN</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_1000056 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000056">
        <rdfs:label>Hemoglobin Genotype S/C-Harlem</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_1000039"/>
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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_1000058"/>
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        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0003303"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000062"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000196"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000044"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/SCDO_1000222"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SCDO_0000514"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns3:SCDO_0000340>PMID: 1148394</ns3:SCDO_0000340>
        <oboInOwl:hasExactSynonym>Haemoglobin Genotype S/C-Harlem</oboInOwl:hasExactSynonym>
        <ns3:SCDO_0000303>Request inclusion into relevant ontology</ns3:SCDO_0000303>
        <oboInOwl:hasExactSynonym>beta6Glu&gt;Val/beta6Glu&gt;Val, beta73Asp&gt;Asn</oboInOwl:hasExactSynonym>
        <ns3:SCDO_1000288>None</ns3:SCDO_1000288>
        <dc:creator>SCDO</dc:creator>
        <ns3:IAO_0000115>Compound heterozygous inheritance of Hb S and Hb C-Harlem mutations. Hb S occurs from substitution of valine for glutamic acid in the beta-6 position (beta6Glu&gt;Val). Hb C-Harlem involves two substitutions in each beta-chain: the first being identical to that found in Hb S, and the second being a substitution of aspartic acid at position 73 by asparagine (beta73Asp&gt;Asn).</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>S/C-Harlem Genotype</oboInOwl:hasExactSynonym>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000058 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000058">
        <rdfs:label>Hemoglobin C-Harlem</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SCDO_1000062 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SCDO_1000062">
        <rdfs:label>Sickle Cell Disease-S/C-Harlem</rdfs:label>
    </Class>
</rdf:RDF>



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



