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        <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_0011481 -->

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        <rdfs:label>craniosynostosis 2</rdfs:label>
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        <oboInOwl:hasDbXref>OMIM:604757</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>MSX2-related craniosynostosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>craniosynostosis Warman type</oboInOwl:hasRelatedSynonym>
        <ns4:IAO_0000115>A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>Orphanet:1541</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>craniosynostosis, Warman type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>CRS2</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>UMLS:C1858160</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>GARD:0005538</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:720817008</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>MEDGEN:346753</oboInOwl:hasDbXref>
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