<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0007574"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://purl.obolibrary.org/obo/mondo#"
     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: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://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#otar"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#curated_content_resource"/>
    <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#hasRelatedSynonym"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/14415 -->

    <Class rdf:about="http://identifiers.org/hgnc/14415">
        <rdfs:label>ELOVL4</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007574 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007574">
        <rdfs:label>spinocerebellar ataxia type 34</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019270"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019792"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100118"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/14415"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/spinocerebellar_ataxia_34</ns5:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>Giroux Barbeau syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>spinocerebellar ataxia type 34</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0000059</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>erythrokeratodermia - ataxia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C1851481</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C535738</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0050981</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>spinocerebellar ataxia 34</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:1955</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>spinocerebellar ataxia and erythrokeratodermia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>erythrokeratodermia with ataxia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NORD:1105</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:338703</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SCA34</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.</ns4:IAO_0000115>
        <oboInOwl:id>MONDO:0007574</oboInOwl:id>
        <oboInOwl:hasDbXref>SCTID:719255000</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Erythrokeratodermia with Ataxia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:133190</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/338703"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C535738"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/719255000"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1851481"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050981"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_1955"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/133190"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019270 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019270">
        <rdfs:label>erythrokeratoderma</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019792 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019792">
        <rdfs:label>autosomal dominant cerebellar ataxia type I</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100118 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100118">
        <rdfs:label>hereditary skin disorder</rdfs:label>
    </Class>
</rdf:RDF>



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



