<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/DOID?iri=http://purl.obolibrary.org/obo/DOID_0112223"?>
<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://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_0050737 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0050737">
        <rdfs:label xml:lang="en">autosomal recessive disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0112202 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0112202">
        <rdfs:label xml:lang="en">developmental and epileptic encephalopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0112223 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0112223">
        <rdfs:label xml:lang="en">developmental and epileptic encephalopathy 89</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0050737"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0112202"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/IDO_0000664"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GENO_0000148"/>
            </Restriction>
        </rdfs:subClassOf>
        <oboInOwl:hasDbXref>MIM:619124</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym xml:lang="en">DEE89</oboInOwl:hasExactSynonym>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <oboInOwl:id>DOID:0112223</oboInOwl:id>
        <ns4:IAO_0000115 xml:lang="en">A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym xml:lang="en">early infantile epileptic encephalopathy 89</oboInOwl:hasExactSynonym>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GENO_0000148 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000148">
        <rdfs:label>autosomal recessive inheritance</rdfs:label>
    </Class>
</rdf:RDF>



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



