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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/4318 -->

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        <ns4:IAO_0000115>Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.</ns4:IAO_0000115>
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        <oboInOwl:hasExactSynonym>holoprosencephaly with microphthalmia and first branchial arch anomalies</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>GARD:0024875</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>HPE9</oboInOwl:hasExactSynonym>
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