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    <!-- http://purl.obolibrary.org/obo/NCIT_C129022 -->

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        <rdfs:label>Deafness, Autosomal Recessive 1A</rdfs:label>
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        <ns3:NCIT_P207>C2673759</ns3:NCIT_P207>
        <ns3:NCIT_P322>Cellosaurus</ns3:NCIT_P322>
        <ns3:NCIT_P106>Disease or Syndrome</ns3:NCIT_P106>
        <ns3:NCIT_P108>Deafness, Autosomal Recessive 1A</ns3:NCIT_P108>
        <oboInOwl:hasExactSynonym>DFNB1A</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.</ns3:IAO_0000115>
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