<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0011439"?>
<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/9305 -->

    <Class rdf:about="http://identifiers.org/hgnc/9305">
        <rdfs:label>PPP2R2B</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0011439 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011439">
        <rdfs:label>spinocerebellar ataxia type 12</rdfs:label>
        <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/9305"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/spinocerebellar_ataxia_12</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>OMIM:604326</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0050962</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:719208005</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SCA12</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:98762</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>spinocerebellar ataxia 12</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C1858501</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C565790</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.</ns4:IAO_0000115>
        <oboInOwl:id>MONDO:0011439</oboInOwl:id>
        <oboInOwl:hasDbXref>icd11.foundation:1210063722</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C154316</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>spinocerebellar ataxia type 12</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0010476</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:347653</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1210063722"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/347653"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C565790"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/719208005"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1858501"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050962"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C154316"/>
        <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_98762"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/604326"/>
    </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 -->



