<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0008119"?>
<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#doid_rare"/>
    <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/10548 -->

    <Class rdf:about="http://identifiers.org/hgnc/10548">
        <rdfs:label>ATXN1</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008119 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008119">
        <rdfs:label>spinocerebellar ataxia type 1</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0019792"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                        <someValuesFrom rdf:resource="http://identifiers.org/hgnc/10548"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015548"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019792"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/10548"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/spinocerebellar_ataxia_1</ns5:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>spinocerebellar ataxia 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:98755</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Sca1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>SCA1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C0752120</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0004071</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0050954</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:2071487961</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200045</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>NCIT:C129982</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:155703</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:164400</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:715748006</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>ATXN1 autosomal dominant cerebellar ataxia type I</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>OPCA1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0008119</oboInOwl:id>
        <oboInOwl:hasExactSynonym>autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>spinocerebellar ataxia type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>OPCA4</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/2071487961"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/155703"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/715748006"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0752120"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050954"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C129982"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#doid_rare"/>
        <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_98755"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/164400"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015548 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015548">
        <rdfs:label>Huntington disease-like syndrome</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>
</rdf:RDF>



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



