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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/7392 -->

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        <rdfs:label>MSX2</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0008198 -->

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        <rdfs:label>parietal foramina with cleidocranial dysplasia</rdfs:label>
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        <oboInOwl:hasRelatedSynonym>PFMCCD</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0017207</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C566825</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>MEDGEN:401479</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>OMIM:168550</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>UMLS:C1868597</oboInOwl:hasDbXref>
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        <rdfs:label>skeletal dysplasia</rdfs:label>
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