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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/27230 -->

    <Class rdf:about="http://identifiers.org/hgnc/27230">
        <rdfs:label>ESCO2</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0003847 -->

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        <rdfs:label>hereditary disease</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0008992 -->

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        <rdfs:label>Juberg-Hayward syndrome</rdfs:label>
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        <ns4:IAO_0000115>Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>NORD:1531</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C537690</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:162906</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>JHS</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>cleft lip/palate-abnormal thumbs-microcephaly syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:216100</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:395922030</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0003060</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Orocraniodigital Syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C0796099</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:2319</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>SCTID:721874001</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>cleft LIP/palate with abnormal thumbs and microcephaly</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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