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    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/6473 -->

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        <rdfs:label>AFF3</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0000426 -->

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        <rdfs:label>autosomal dominant disease</rdfs:label>
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        <rdfs:label>syndromic disease</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0851095 -->

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        <oboInOwl:hasDbXref>MEDGEN:1779339</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2.</ns4:IAO_0000115>
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