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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/1674 -->

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        <rdfs:label>CD3E</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0014278 -->

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        <rdfs:label>immunodeficiency 18</rdfs:label>
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        <ns4:IAO_0000115>Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.</ns4:IAO_0000115>
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        <oboInOwl:hasDbXref>DOID:0060017</oboInOwl:hasDbXref>
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        <oboInOwl:hasExactSynonym>CD3-Epsilon deficiency</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>MEDGEN:816457</oboInOwl:hasDbXref>
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        <rdfs:label>familial severe combined immunodeficiency</rdfs:label>
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