<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/DOID?iri=http://purl.obolibrary.org/obo/DOID_0090045"?>
<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: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://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://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym"/>
    


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


    <!-- http://purl.obolibrary.org/obo/RO_0002488 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002488">
        <rdfs:label>existence starts during</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/DOID_0050736 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0050736">
        <rdfs:label xml:lang="en">autosomal dominant disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0070560 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0070560">
        <rdfs:label xml:lang="en">glucose transporter type 1 deficiency syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0090045 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0090045">
        <rdfs:label xml:lang="en">glucose transporter type 1 deficiency syndrome 2</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0050736"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0070560"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_543"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0002488"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0011463"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/IDO_0000664"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GENO_0000147"/>
            </Restriction>
        </rdfs:subClassOf>
        <oboInOwl:id>DOID:0090045</oboInOwl:id>
        <skos:exactMatch>UMLS_CUI:C1842534</skos:exactMatch>
        <oboInOwl:hasDbXref>ORDO:98811</oboInOwl:hasDbXref>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <oboInOwl:hasDbXref>MESH:C564288</oboInOwl:hasDbXref>
        <skos:exactMatch>MIM:612126</skos:exactMatch>
        <skos:exactMatch>GARD:10541</skos:exactMatch>
        <ns4:IAO_0000115 xml:lang="en">A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.</ns4:IAO_0000115>
        <skos:exactMatch>MESH:C564288</skos:exactMatch>
        <oboInOwl:hasExactSynonym xml:lang="en">DYT18</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SNOMEDCT_US_2025_09_01:724072002</oboInOwl:hasDbXref>
        <skos:exactMatch>ORDO:98811</skos:exactMatch>
        <oboInOwl:hasExactSynonym xml:lang="en">GLUT1 deficiency syndrome 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">GLUT1DS2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS_CUI:C1842534</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MIM:612126</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:10541</oboInOwl:hasDbXref>
        <oboInOwl:hasBroadSynonym xml:lang="en">PED</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">childhood-onset GLUT1 deficiency syndrome 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">dystonia 18</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym xml:lang="en">paroxysmal exercise-induced dyskinesia</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasBroadSynonym xml:lang="en">paroxysmal exertion-induced dyskinesia</oboInOwl:hasBroadSynonym>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#DO_rare_slim"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_543 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_543">
        <rdfs:label xml:lang="en">dystonia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GENO_0000147 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000147">
        <rdfs:label>autosomal dominant inheritance</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0011463 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0011463">
        <rdfs:label>Childhood onset</rdfs:label>
    </Class>
</rdf:RDF>



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



