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    <!-- http://purl.obolibrary.org/obo/MONDO_0005027 -->

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        <rdfs:label>epilepsy</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0015723 -->

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        <rdfs:label>trisomy 12p</rdfs:label>
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        <oboInOwl:hasDbXref>MEDGEN:162880</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0795845</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C538299</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>chromosome 12p duplication</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>12p trisomy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Duplication 12p</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>partial trisomy 12p</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0005305</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>Orphanet:1699</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0015723</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>12p duplication</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>trisomy type 12p</oboInOwl:hasExactSynonym>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0016933 -->

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        <rdfs:label>partial trisomy/tetrasomy of the short arm of chromosome 12</rdfs:label>
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