<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0020380"?>
<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/"
     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:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/mondo#">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#disease_grouping"/>
    <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#excluded_subClassOf"/>
    <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://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000233"/>
    <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://www.geneontology.org/formats/oboInOwl#hasBroadSynonym"/>
    <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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#should_conform_to"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0000053 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0000053">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#InverseFunctionalProperty"/>
        <rdfs:label>has characteristic</rdfs:label>
        <rdfs:label xml:lang="en">has characteristic</rdfs:label>
    </ObjectProperty>
    


    <!-- http://purl.obolibrary.org/obo/RO_0004029 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004029">
        <rdfs:label>disease has feature</rdfs:label>
    </ObjectProperty>
    


    <!-- http://purl.obolibrary.org/obo/mondo#disease_has_major_feature -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/mondo#disease_has_major_feature">
        <rdfs:label>disease has major feature</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/HP_0000006 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0000006">
        <rdfs:label>Autosomal dominant inheritance</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0002503 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0002503">
        <rdfs:label>Spinocerebellar tract degeneration</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000426 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000426">
        <rdfs:label>autosomal dominant disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0001627 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0001627">
        <rdfs:label>dementia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015368 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015368">
        <rdfs:label>obsolete neuro-ophthalmological disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015547 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015547">
        <rdfs:label>hereditary dementia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020380 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020380">
        <rdfs:label>autosomal dominant cerebellar ataxia</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0100310"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0000053"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0000006"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000426"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015547"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100310"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0002503"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_has_major_feature"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0001627"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/8301</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9285</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/pull/2571/</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/autosomal_dominant_cerebellar_ataxia</ns3:curated_content_resource>
        <oboInOwl:hasDbXref>Orphanet:99</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>ADCA</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>cerebellar ataxia, autosomal dominant</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym>SCA</oboInOwl:hasBroadSynonym>
        <ns5:IAO_0000115>A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>MEDGEN:1684639</oboInOwl:hasDbXref>
        <oboInOwl:hasBroadSynonym>spinocerebellar ataxia</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>SCTID:129609000</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>autosomal dominant spinocerebellar ataxia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Autosomal Dominant Hereditary Ataxia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Pierre Marie cerebellar ataxia (formerly)</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0020380</oboInOwl:id>
        <oboInOwl:hasDbXref>UMLS:C4087347</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:825</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0004346</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:334.3</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIMPS:164400</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:1441</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1684639"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/129609000"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4087347"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_1441"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015368"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_grouping"/>
        <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_group_of_disorders"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <ns3:should_conform_to rdf:resource="http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_99"/>
        <skos:exactMatch rdf:resource="https://omim.org/phenotypicSeries/PS164400"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100310 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100310">
        <rdfs:label>hereditary cerebellar ataxia</rdfs:label>
    </Class>
</rdf:RDF>



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



