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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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        <rdfs:label>disease has feature</rdfs:label>
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    <!-- http://identifiers.org/hgnc/29331 -->

    <Class rdf:about="http://identifiers.org/hgnc/29331">
        <rdfs:label>EPG5</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0001644 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0001644">
        <rdfs:label>Dilated cardiomyopathy</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

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        <rdfs:label>syndromic disease</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0005046 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005046">
        <rdfs:label>immune system disorder</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0006025 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006025">
        <rdfs:label>autosomal recessive disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009452 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009452">
        <rdfs:label>Vici syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005046"/>
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        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015161"/>
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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/5682</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6747</ns5:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/448/vici-syndrome</rdfs:seeAlso>
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        <oboInOwl:hasDbXref>DOID:0060356</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C138174</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>VICIS</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>absent corpus callosum-cataract-immunodeficiency syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0009452</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>Dionisi Vici Sabetta Gambarara syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>absent corpus callosum cataract immunodeficiency</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0000448</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.</ns5:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:1493</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:719824001</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:340962</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1855772</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Dionisi-Vici-Sabetta-Gambarara syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Vici syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:242840</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>corpus callosum agenesis-cataract-immunodeficiency syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C535566</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0015161 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015161">
        <rdfs:label>multiple congenital anomalies/dysmorphic syndrome without intellectual disability</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0016337 -->

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        <rdfs:label>obsolete syndrome associated with dilated cardiomyopathy</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0019290 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019290">
        <rdfs:label>hypopigmentation of the skin</rdfs:label>
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