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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/6171 -->

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        <rdfs:label>ITK</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0013081 -->

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        <oboInOwl:hasDbXref>MESH:C567815</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C126344</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>LPFS1</oboInOwl:hasExactSynonym>
        <ns5:IAO_0000115>A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..</ns5:IAO_0000115>
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        <oboInOwl:hasDbXref>Orphanet:538963</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>lymphoproliferative syndrome 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>ITK lymphoproliferative syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:613011</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>NANDO:2200734</oboInOwl:hasDbXref>
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