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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/21308 -->

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        <rdfs:label>ELOVL5</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0014417 -->

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        <rdfs:label>spinocerebellar ataxia type 38</rdfs:label>
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        <oboInOwl:hasRelatedSynonym>spinocerebellar ataxia 38</oboInOwl:hasRelatedSynonym>
        <ns4:IAO_0000115>Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.</ns4:IAO_0000115>
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        <oboInOwl:hasDbXref>UMLS:C4518337</oboInOwl:hasDbXref>
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