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    <!-- http://purl.obolibrary.org/obo/MONDO_0000508 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000508">
        <rdfs:label>syndromic intellectual disability</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0011045 -->

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        <rdfs:label>MMEP syndrome</rdfs:label>
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        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/microphthalmia_syndromic_8_2</ns2:curated_content_resource>
        <oboInOwl:hasExactSynonym>Viljoen-Smart syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C537686</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Viljoen Smart syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>microphthalmia, syndromic 8</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:715533002</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:3434</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:330469</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>microcephaly microphthalmia ectrodactyly of lower limbs and prognathism</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0111803</oboInOwl:hasDbXref>
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        <ns4:IAO_0000115>A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.</ns4:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>microphthalmia syndromic 8</oboInOwl:hasRelatedSynonym>
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        <oboInOwl:hasRelatedSynonym>MMEP</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0003693</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>syndromic microphthalmia type 8</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:601349</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1832440</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0015159 -->

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        <rdfs:label>multiple congenital anomalies/dysmorphic syndrome-intellectual disability</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0016073 -->

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