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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/1092 -->

    <Class rdf:about="http://identifiers.org/hgnc/1092">
        <rdfs:label>FOXL2</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000426 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000426">
        <rdfs:label>autosomal dominant disease</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0007201 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007201">
        <rdfs:label>blepharophimosis, ptosis, and epicanthus inversus syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000426"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0008537"/>
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                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/1092"/>
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        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/blepharophimosis_ptosis_and_epicanthus_inversus</ns3:curated_content_resource>
        <oboInOwl:hasExactSynonym>blepharophimosis-epicanthus inversus-ptosis syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:66312</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>blepharophimosis, ptosis, epicanthus inversus with ovarian failure</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>blepharophimosis, ptosis, and epicanthus inversus</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0000023</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>OMIM:110100</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:126</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0007201</oboInOwl:id>
        <oboInOwl:hasDbXref>UMLS:C0220663</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>blepharophimosis, epicanthus inversus, and ptosis, type 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C562419</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:715391004</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>blepharophimosis, epicanthus inversus, and ptosis, type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>blepharophimosis types 1 and 2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>BPES with premature ovarian failure</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>blepharophimosis syndrome type 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>blepharophimosis, ptosis, and epicanthus inversus syndrome type 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>DOID:14778</oboInOwl:hasDbXref>
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        <oboInOwl:hasExactSynonym>blepharophimosis, ptosis, epicanthus inversus syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>BPES</oboInOwl:hasExactSynonym>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0008537 -->

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        <rdfs:label>telecanthus</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0015217 -->

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        <rdfs:label>obsolete non-syndromic developmental defect of the eye</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0019852 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019852">
        <rdfs:label>inherited primary ovarian failure</rdfs:label>
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