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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/20330 -->

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        <rdfs:label>POMP</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0011169 -->

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        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6877</ns4:IAO_0000233>
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        <oboInOwl:hasDbXref>GARD:0017306</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:356430</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>Orphanet:281201</oboInOwl:hasDbXref>
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        <ns4:IAO_0000115>Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.</ns4:IAO_0000115>
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