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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/1247 -->

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        <rdfs:label>C1S</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0000015 -->

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        <rdfs:label>classic complement early component deficiency</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0013419 -->

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        <oboInOwl:hasDbXref>MEDGEN:462428</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2200779</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C3151078</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C565170</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0015707</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0013419</oboInOwl:id>
        <oboInOwl:hasExactSynonym>complement component C1s deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>C1SD</oboInOwl:hasRelatedSynonym>
        <ns4:IAO_0000115>A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.</ns4:IAO_0000115>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0015699 -->

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