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    <!-- http://purl.obolibrary.org/obo/RO_0004020 -->

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    <!-- http://identifiers.org/hgnc/1665 -->

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        <rdfs:label>SCARB2</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0009699 -->

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        <ns3:IAO_0000115 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.</ns3:IAO_0000115>
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