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    <!-- http://purl.obolibrary.org/obo/MONDO_0019287 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019287">
        <rdfs:label>ectodermal dysplasia syndrome</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0800465 -->

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        <rdfs:label>CTSC-related disorder</rdfs:label>
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        <ns3:IAO_0000115>Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.</ns3:IAO_0000115>
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