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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/11592 -->

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        <rdfs:label>TBX1</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0008644 -->

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        <oboInOwl:hasDbXref>NANDO:2200712</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>deletion 22q11.2 syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C0220704</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200688</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:65085</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>22q11 deletion syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:192430</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Shprintzen syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>VCF syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0008644</oboInOwl:id>
        <ns4:IAO_0000115>A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.</ns4:IAO_0000115>
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        <oboInOwl:hasDbXref>NANDO:1200339</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:12583</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>ICD9:758.32</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0015123</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0100545 -->

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        <rdfs:label>cardiogenetic disease</rdfs:label>
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