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    <!-- http://purl.obolibrary.org/obo/NCIT_C165258 -->

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        <rdfs:label>Cellosaurus Disease Terminology</rdfs:label>
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        <rdfs:label>Spinal and Bulbar Muscular Atrophy, X-linked 1</rdfs:label>
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        <ns4:NCIT_P207>C1839259</ns4:NCIT_P207>
        <ns4:NCIT_P108>Spinal and Bulbar Muscular Atrophy, X-linked 1</ns4:NCIT_P108>
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        <oboInOwl:hasExactSynonym>SMAX1</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy, and gynecomastia.</ns4:IAO_0000115>
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