<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/DOID?iri=http://purl.obolibrary.org/obo/DOID_0060358"?>
<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:doid="http://purl.obolibrary.org/obo/doid#"
     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://purl.obolibrary.org/obo/doid#DO_rare_slim">
        <rdfs:label>DO_rare_slim</rdfs:label>
    </AnnotationProperty>
    <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#inSubset"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/doid#NCIthesaurus">
        <rdfs:label>NCIthesaurus</rdfs:label>
    </AnnotationProperty>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0002200 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002200">
        <rdfs:label xml:lang="en">has phenotype</rdfs:label>
    </ObjectProperty>
    


    <!-- http://purl.obolibrary.org/obo/RO_0004019 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004019">
        <rdfs:label>disease has basis in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/DOID_0060358 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0060358">
        <rdfs:label xml:lang="en">multiple acyl-CoA dehydrogenase deficiency</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_655"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004019"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SO_0001537"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0002200"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0032245"/>
            </Restriction>
        </rdfs:subClassOf>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <oboInOwl:hasDbXref>MESH:D054069</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ORDO:26791</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SNOMEDCT_US_2025_09_01:22886006</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS_CUI:C0268596</oboInOwl:hasDbXref>
        <oboInOwl:id>DOID:0060358</oboInOwl:id>
        <oboInOwl:hasDbXref>UMLS_CUI:C1856401</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS_CUI:C1856403</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10CM:E71.313</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS_CUI:C1856405</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCI:C84907</oboInOwl:hasDbXref>
        <oboInOwl:creation_date>2015-08-20T16:23:47Z</oboInOwl:creation_date>
        <oboInOwl:hasDbXref>MIM:231680</oboInOwl:hasDbXref>
        <ns4:IAO_0000115 xml:lang="en">An inherited metabolic disorder characterized by the body&#39;s inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym xml:lang="en">MAD deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">MADD</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">electron transfer flavoprotein deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">electron transfer flavoprotein ubiquinone oxidoreductase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">glutaric acidemia type 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">glutaric aciduria type 2</oboInOwl:hasExactSynonym>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#DO_rare_slim"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#NCIthesaurus"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_655 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_655">
        <rdfs:label xml:lang="en">inherited metabolic disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0032245 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0032245">
        <rdfs:label>Abnormal metabolism</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SO_0001537 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SO_0001537">
        <rdfs:label>structural_variant</rdfs:label>
    </Class>
</rdf:RDF>



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



