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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/7127 -->

    <Class rdf:about="http://identifiers.org/hgnc/7127">
        <rdfs:label>MLH1</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0010159 -->

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        <rdfs:label>mismatch repair cancer syndrome 1</rdfs:label>
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        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6752</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/7068</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9178</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9285</ns4:IAO_0000233>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/mismatch_repair_cancer_syndrome_1</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>UMLS:C5399763</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0010159</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>glioma-polyposis syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:61665008</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>MLH1-related constitutional mismatch repair deficiency syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C536928</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.</ns4:IAO_0000115>
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        <oboInOwl:hasDbXref>MEDGEN:1748029</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:276300</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0000420</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>MMRCS1</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasRelatedSynonym>CNS tumours with familial polyposis of the colon</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Turcot Syndrome</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasExactSynonym>mismatch repair cancer syndrome 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>BTP1 syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>malignant tumours of the central nervous system associated with familial polyposis of the colon</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>MMRCS</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>malignant tumors of the central nervous system associated with familial polyposis of the colon</oboInOwl:hasRelatedSynonym>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0015356 -->

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        <rdfs:label>hereditary neoplastic syndrome</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0100545 -->

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        <rdfs:label>hereditary neurological disease</rdfs:label>
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