<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/DOID?iri=http://purl.obolibrary.org/obo/DOID_0050715"?>
<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: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://www.geneontology.org/formats/oboInOwl#hasOBONamespace"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#creation_date"/>
    <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#id"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/IDO_0000664 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/IDO_0000664">
        <rdfs:label>has material basis in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/DOID_0050715 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0050715">
        <rdfs:label xml:lang="en">methylmalonic aciduria and homocystinuria type cblC</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0080578"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_14749"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/IDO_0000664"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GENO_0000930"/>
            </Restriction>
        </rdfs:subClassOf>
        <oboInOwl:id>DOID:0050715</oboInOwl:id>
        <oboInOwl:hasDbXref>MIM:277400</oboInOwl:hasDbXref>
        <oboInOwl:creation_date>2012-05-23T03:26:25Z</oboInOwl:creation_date>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <ns4:IAO_0000115 xml:lang="en">A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym xml:lang="en">Cobalamin C deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">MAHCC</oboInOwl:hasExactSynonym>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0080578 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0080578">
        <rdfs:label xml:lang="en">digenic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_14749 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_14749">
        <rdfs:label xml:lang="en">methylmalonic acidemia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GENO_0000930 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000930">
        <rdfs:label xml:lang="en">digenic inheritance</rdfs:label>
    </Class>
</rdf:RDF>



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



