<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/DOID?iri=http://purl.obolibrary.org/obo/DOID_0070148"?>
<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:skos="http://www.w3.org/2004/02/skos/core#"
     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://www.w3.org/2004/02/skos/core#broadMatch"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#closeMatch"/>
    <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"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/doid#NCIthesaurus">
        <rdfs:label>NCIthesaurus</rdfs:label>
    </AnnotationProperty>
    


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


    <!-- http://purl.obolibrary.org/obo/RO_0002488 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0002488">
        <rdfs:label>existence starts during</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>
    


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

    


    <!-- http://purl.obolibrary.org/obo/DOID_0050737 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0050737">
        <rdfs:label xml:lang="en">autosomal recessive disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0070148 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0070148">
        <rdfs:label xml:lang="en">cerebellar ataxia, neuropathy, and vestibular areflexia syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0050737"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_225"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/IDO_0000664"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GENO_0000148"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0002488"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0003581"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/DOID_2491"/>
            </Restriction>
        </rdfs:subClassOf>
        <oboInOwl:hasDbXref>ORDO:504476</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SNOMEDCT_US_2025_09_01:1236804009</oboInOwl:hasDbXref>
        <skos:closeMatch>ORDO:504476</skos:closeMatch>
        <skos:closeMatch>MESH:C564296</skos:closeMatch>
        <skos:broadMatch>ICD10CM:G60.8</skos:broadMatch>
        <oboInOwl:hasDbXref>MIM:614575</oboInOwl:hasDbXref>
        <skos:closeMatch>UMLS_CUI:C1842586</skos:closeMatch>
        <oboInOwl:id>DOID:0070148</oboInOwl:id>
        <skos:closeMatch>ORDO:139564</skos:closeMatch>
        <oboInOwl:hasDbXref>MESH:C564296</oboInOwl:hasDbXref>
        <skos:closeMatch>MESH:C000726747</skos:closeMatch>
        <skos:exactMatch>MIM:614575</skos:exactMatch>
        <oboInOwl:hasExactSynonym xml:lang="en">CANVAS</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS_CUI:C3281223</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCI:C202046</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ORDO:139564</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SNOMEDCT_US_2025_09_01:717825008</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS_CUI:C1842586</oboInOwl:hasDbXref>
        <ns4:IAO_0000115 xml:lang="en">A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux.</ns4:IAO_0000115>
        <skos:broadMatch>ICD10CM:G11.2</skos:broadMatch>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <skos:closeMatch>NCI:C202046</skos:closeMatch>
        <skos:closeMatch>UMLS_CUI:C3281223</skos:closeMatch>
        <oboInOwl:hasDbXref>MESH:C000726747</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym xml:lang="en">hereditary sensory and autonomic neuropathy type 1B</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">hereditary sensory neuropathy type 1B</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">hereditary sensory neuropathy type IB</oboInOwl:hasExactSynonym>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#DO_rare_slim"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#NCIthesaurus"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_225 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_225">
        <rdfs:label xml:lang="en">syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_2491 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_2491">
        <rdfs:label xml:lang="en">sensory peripheral neuropathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GENO_0000148 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000148">
        <rdfs:label>autosomal recessive inheritance</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0003581 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0003581">
        <rdfs:label>Adult onset</rdfs:label>
    </Class>
</rdf:RDF>



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



