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    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
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    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

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        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/17233 -->

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        <rdfs:label>ELMO2</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0003847 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0003847">
        <rdfs:label>hereditary disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0011744 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011744">
        <rdfs:label>primary intraosseous venous malformation</rdfs:label>
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        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/primary_intraosseous_venous_malformation</ns5:curated_content_resource>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/vascular_malformation_primary_intraosseous</ns5:curated_content_resource>
        <oboInOwl:id>MONDO:0011744</oboInOwl:id>
        <ns4:IAO_0000115>Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>osseous venous malformation</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:764100007</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C564648</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:376071</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0016961</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1847197</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:606893</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>intraosseous hemangioma</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:140436</oboInOwl:hasDbXref>
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        <skos:exactMatch rdf:resource="https://omim.org/entry/606893"/>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0016223 -->

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        <rdfs:label>infantile hemangioma of rare localization</rdfs:label>
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