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    <!-- http://purl.obolibrary.org/obo/MONDO_0011936 -->

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        <rdfs:label>microphthalmia with brain and digit anomalies</rdfs:label>
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        <oboInOwl:hasRelatedSynonym>anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Bakrania-Ragge syndrome</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>GARD:0003645</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0011936</oboInOwl:id>
        <oboInOwl:hasExactSynonym>microphthalmia, syndromic type 6</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>OMIM:607932</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.</ns3:IAO_0000115>
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        <oboInOwl:hasDbXref>SCTID:721878003</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:139471</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0016073 -->

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        <rdfs:label>syndromic microphthalmia</rdfs:label>
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