<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0011811"?>
<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:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ORDO="http://www.orpha.net/ORDO/"
     xmlns:ns4="http://purl.obolibrary.org/obo/mondo#"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/">
    


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

    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0011811 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011811">
        <rdfs:label>autosomal recessive cerebellar ataxia-saccadic intrusion syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020047"/>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_4_2</ns4:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>spinocerebellar ataxia, autosomal recessive 4</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C1846492</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>spinocerebellar ataxia autosomal recessive 4</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C537310</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:335442</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0004952</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>DOID:0111611</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:95434</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SCAR4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>spinocerebellar ataxia 24 (formerly)</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:607317</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SCASI</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0011811</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>spinocerebellar ataxia 24</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/335442"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537310"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1846492"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0111611"/>
        <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_95434"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/607317"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020047 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020047">
        <rdfs:label>autosomal recessive syndromic cerebellar ataxia</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_95434 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_95434">
        <rdfs:label>Autosomal recessive cerebellar ataxia - saccadic intrusion</rdfs:label>
    </Class>
</rdf:RDF>



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



