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        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/23505 -->

    <Class rdf:about="http://identifiers.org/hgnc/23505">
        <rdfs:label>BMS1</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0007145 -->

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        <rdfs:label>aplasia cutis congenita</rdfs:label>
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        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/aplasia_cutis_congenita_nonsyndromic</ns5:curated_content_resource>
        <oboInOwl:id>MONDO:0007145</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>ACC</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>aplasia cutis congenita (disease)</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:35484002</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:1114</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:794</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.</ns4:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>aplasia cutis congenita, nonsyndromic</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>ICD9:757.39</oboInOwl:hasDbXref>
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        <oboInOwl:hasRelatedSynonym>aplasia cutis congenita nonsyndromic</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0005835</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C98822</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>HP:0001057</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>DOID:0080661</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>aplasia cutis congenita recessive</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C0282160</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>scalp defect congenital</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:107600</oboInOwl:hasDbXref>
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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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    <!-- http://purl.obolibrary.org/obo/MONDO_0100118 -->

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        <rdfs:label>hereditary skin disorder</rdfs:label>
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