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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/2197 -->

    <Class rdf:about="http://identifiers.org/hgnc/2197">
        <rdfs:label>COL1A1</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008146 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008146">
        <rdfs:label>osteogenesis imperfecta type 1</rdfs:label>
        <equivalentClass>
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        </rdfs:subClassOf>
        <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/8758</ns4:IAO_0000233>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/osteogenesis_imperfecta_type_i_2</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>mild osteogenesis imperfecta</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>osteogenesis imperfecta type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>non-deforming osteogenesis imperfecta</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>classic non-deforming OI with blue sclerae</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:1897905410</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Van der Hoeve syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0008146</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>osteogenesis imperfecta tarda</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>OI1</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.</ns4:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>osteogenesis imperfecta, type 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>COL1A1-related osteogenesis imperfecta</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:166200</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>OI type 1</oboInOwl:hasExactSynonym>
        <rdfs:comment>Editor note: we follow ordo and place van der hoeve as exact synonym</rdfs:comment>
        <oboInOwl:hasRelatedSynonym>OI, type 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>osteogenesis imperfecta, type I</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0008694</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0023931</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>osteogenesis imperfecta type I</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NCIT:C99003</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0110334</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:385482004</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:9799</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:216796</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Adair-Dighton syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>osteogenesis imperfecta with blue sclerae</oboInOwl:hasRelatedSynonym>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0019019 -->

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        <rdfs:label>osteogenesis imperfecta</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0800064 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0800064">
        <rdfs:label>osteogenesis imperfecta and a reduction of bone mineral density.</rdfs:label>
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