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    <!-- http://purl.obolibrary.org/obo/MONDO_0012013 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0012013">
        <rdfs:label>Weill-Marchesani syndrome 2, dominant</rdfs:label>
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        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/weill_marchesani_syndrome_2</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>GEMSS</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.</ns3:IAO_0000115>
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        <oboInOwl:hasExactSynonym>Weill-Marchesani syndrome type 2</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>UMLS:C1869115</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Weill-Marchesani syndrome 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym>spherophakia-brachymorphia syndrome</oboInOwl:hasBroadSynonym>
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        <oboInOwl:hasDbXref>GARD:0002452</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>GEMSS syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:358388</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:608328</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:2084</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0061274</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Weill-Marchesani syndrome, autosomal dominant</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym>mesodermal Dysmorphodystrophy, congenital</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasExactSynonym>WMS2</oboInOwl:hasExactSynonym>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0018096 -->

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        <rdfs:label>Weill-Marchesani syndrome</rdfs:label>
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        <rdfs:label>Glaucoma - ectopia - microspherophakia - stiff joints - short stature</rdfs:label>
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