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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/18249 -->

    <Class rdf:about="http://identifiers.org/hgnc/18249">
        <rdfs:label>KCTD1</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0008404 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008404">
        <rdfs:label>scalp-ear-nipple syndrome</rdfs:label>
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        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019287"/>
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        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/scalp_ear_nipple_syndrome_2</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>scalp-ear-nipple syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:181270</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0111550</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0000159</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:2036</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Finlay-Marks syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>SENS</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:357183</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0008404</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>Sen syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:721888002</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:88843032</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>MESH:C536623</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1867020</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>scalp ear nipple syndrome</oboInOwl:hasRelatedSynonym>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0015161 -->

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        <rdfs:label>multiple congenital anomalies/dysmorphic syndrome without intellectual disability</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0019287 -->

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        <rdfs:label>ectodermal dysplasia syndrome</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0019294 -->

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        <rdfs:label>mixed dermis disorder</rdfs:label>
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