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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/812 -->

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        <rdfs:label>ATP2A2</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0007417 -->

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        <rdfs:label>Darier disease</rdfs:label>
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        <oboInOwl:hasDbXref>DOID:2734</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Darier White disease</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Keratosis Follicularis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:5956</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MedDRA:10023369</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:218</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0007417</oboInOwl:id>
        <oboInOwl:hasDbXref>OMIM:124200</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>keratosis follicularis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NCIT:C84665</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:643994486</oboInOwl:hasDbXref>
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        <oboInOwl:hasRelatedSynonym>DAR</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Darier disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Darier-White disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NORD:1329</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.</ns4:IAO_0000115>
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        <oboInOwl:hasDbXref>UMLS:C0022595</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:48611009</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0019268 -->

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        <rdfs:label>epidermal disease</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0100118 -->

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