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    <!-- http://purl.obolibrary.org/obo/MONDO_0007894 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007894">
        <rdfs:label>Leri pleonosteosis</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019054"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019695"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns3:IAO_0000233>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns3:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/chromosome_8q221_duplication_syndrome</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>Orphanet:2900</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:151200</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Leri type pleonosteosis</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>chromosome 8q22.1 DUPLICATION syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:331978</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Leri pleonosteosis</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0007894</oboInOwl:id>
        <oboInOwl:hasDbXref>MESH:C537118</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>leri pleonosteosis chromosome duplication syndrome</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a &#39;spade-shaped&#39; appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.</ns3:IAO_0000115>
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        <oboInOwl:hasDbXref>NORD:1364</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0000088</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Leri&#39;s pleonosteosis</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C1835450</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0019054 -->

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        <rdfs:label>congenital limb malformation</rdfs:label>
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        <rdfs:label>acromelic dysplasia</rdfs:label>
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