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    <!-- http://purl.obolibrary.org/obo/MONDO_1030005 -->

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        <rdfs:label>mosaic SMO syndrome</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_1030006 -->

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        <rdfs:label>Happle-Tinschert syndrome</rdfs:label>
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        <ns3:IAO_0000115>Happle-Tinschert syndrome (HTS) is a rare, sporadic, multisystem disorder characterized by hypo- and hyperpigmented skin patches following Blaschko&#39;s lines, plus acral skeletal and other abnormalities and is characterized by basaloid follicular hamartomas. HTS is caused by a postzygotic mutation in the SMO gene (c.1234C&gt;T, p.Leu412Phe).</ns3:IAO_0000115>
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