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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/1527 -->

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        <rdfs:label>CAV1</rdfs:label>
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    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006536">
        <rdfs:label>congenital generalized lipodystrophy</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0012923 -->

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        <ns4:IAO_0000115>Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.</ns4:IAO_0000115>
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        <oboInOwl:hasRelatedSynonym>type 3 Berardinelli-Seip congenital lipodystrophy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>CAV1 congenital generalized lipodystrophy (disease)</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>DOID:0111137</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>GARD:0013389</oboInOwl:hasDbXref>
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        <oboInOwl:hasExactSynonym>CAV1 congenital generalised lipodystrophy (disease)</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C2675861</oboInOwl:hasDbXref>
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