<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/DOID?iri=http://purl.obolibrary.org/obo/DOID_0060798"?>
<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://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"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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_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_0060786 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0060786">
        <rdfs:label xml:lang="en">hypomyelinating leukodystrophy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0060798 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0060798">
        <rdfs:label xml:lang="en">hypomyelinating leukodystrophy 6</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0050736"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0060786"/>
        <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:hasDbXref>MIM:612438</oboInOwl:hasDbXref>
        <ns4:IAO_0000115 xml:lang="en">A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>ORDO:139441</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10CM:E75.2</oboInOwl:hasDbXref>
        <oboInOwl:id>DOID:0060798</oboInOwl:id>
        <oboInOwl:hasExactSynonym xml:lang="en">H-ABC</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">HABC</oboInOwl:hasExactSynonym>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <oboInOwl:hasExactSynonym xml:lang="en">HLD6</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">hypomyelination with atrophy of basal ganglia and cerebellum</oboInOwl:hasExactSynonym>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#DO_rare_slim"/>
    </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>
</rdf:RDF>



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



