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    <!-- http://purl.obolibrary.org/obo/MONDO_0001516 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0001516">
        <rdfs:label>spinal muscular atrophy</rdfs:label>
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    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_83419">
        <rdfs:label>Proximal spinal muscular atrophy type 3</rdfs:label>
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        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_98505"/>
        <oboInOwl:hasExactSynonym>Kugelberg-Welander disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>SMA-III</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:D014897</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:12376</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10:G12.1</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:253400</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SMA type 3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SNOMEDCT:54280009</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIt:C118847</oboInOwl:hasDbXref>
        <ns4:definition_citation>orphanet</ns4:definition_citation>
        <ns3:IAO_0000115>Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>Juvenile spinal muscular atrophy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>SMA3</oboInOwl:hasExactSynonym>
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        <rdfs:label>Genetic motor neuron disease</rdfs:label>
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