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    <!-- http://purl.obolibrary.org/obo/MONDO_0005516 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005516">
        <rdfs:label>osteochondrodysplasia</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0010881 -->

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        <rdfs:label>mesomelia-synostoses syndrome</rdfs:label>
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        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016907"/>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6877</ns4:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome</rdfs:seeAlso>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/mesomelia_synostoses_syndrome</ns2:curated_content_resource>
        <oboInOwl:hasExactSynonym>mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>mesomelia synostoses</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>monosomy 8q13</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:2496</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>Del(8)q(13)</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0010881</oboInOwl:id>
        <oboInOwl:hasDbXref>OMIM:600383</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:324959</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>mesomelia-synostoses syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C537348</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1838162</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Verloes-David syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0004302</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>8q13 microdeletion syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:724147004</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0016907 -->

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        <rdfs:label>partial deletion of the long arm of chromosome 8</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0019696 -->

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