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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/3437 -->

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        <rdfs:label>ERCC5</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0008926 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008926">
        <rdfs:label>COFS syndrome</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0010216 -->

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        <rdfs:label>xeroderma pigmentosum group G</rdfs:label>
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        <oboInOwl:hasRelatedSynonym>xeroderma pigmentosum 7</oboInOwl:hasRelatedSynonym>
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        <oboInOwl:hasDbXref>MESH:C562593</oboInOwl:hasDbXref>
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        <oboInOwl:hasRelatedSynonym>xeroderma pigmentosum complementation group G</oboInOwl:hasRelatedSynonym>
        <ns4:IAO_0000115>Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>XP7</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>SCTID:36454001</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>xeroderma pigmentosum type 7</oboInOwl:hasRelatedSynonym>
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        <oboInOwl:hasExactSynonym>xeroderma pigmentosum, group G</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0010216</oboInOwl:id>
        <oboInOwl:hasDbXref>DOID:0110849</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:75657</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C3969</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>xeroderma pigmentosum, complementation group G</oboInOwl:hasRelatedSynonym>
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        <oboInOwl:hasDbXref>UMLS:C0268141</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0016354 -->

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