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- NCIT_C126344 IAO_0000115 "An autosomal recessive immunodeficiency caused but mutation(s) in the ITK gene, encoding tyrosine-protein kinase ITK/TSK. It is characterized by the early childhood onset of Epstein-Barr virus (EBV)-associated immune dysregulation leading to lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, and/or hypogammaglobulinemia." @default.
- NCIT_C126344 NCIT_A13 NCIT_C24526 @default.
- NCIT_C126344 NCIT_NHC0 "C126344" @default.
- NCIT_C126344 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C126344 NCIT_P108 "Lymphoproliferative Syndrome 1" @default.
- NCIT_C126344 NCIT_P207 "C3552634" @default.
- NCIT_C126344 NCIT_P322 "CCPS" @default.
- NCIT_C126344 NCIT_R176 NCIT_C16612 @default.
- NCIT_C126344 NCIT_R176 NCIT_C21281 @default.
- NCIT_C126344 NCIT_R176 NCIT_C24526 @default.
- NCIT_C126344 NCIT_R176 NCIT_C25870 @default.
- NCIT_C126344 NCIT_R176 NCIT_C25871 @default.
- NCIT_C126344 NCIT_R176 NCIT_C25872 @default.
- NCIT_C126344 NCIT_R176 NCIT_C25971 @default.
- NCIT_C126344 normalizedInformationContent "100" @default.
- NCIT_C126344 referenceCount "1" @default.
- NCIT_C126344 hasExactSynonym "IL-2 Inducible T-cell Kinase Deficiency" @default.
- NCIT_C126344 hasExactSynonym "ITK Deficiency" @default.
- NCIT_C126344 hasExactSynonym "LPFS1" @default.
- NCIT_C126344 hasExactSynonym "Lymphoproliferative Syndrome 1" @default.
- NCIT_C126344 hasExactSynonym "Lymphoproliferative Syndrome 1/ITK Deficiency" @default.
- NCIT_C126344 inSubset NCIT_C177281 @default.
- NCIT_C126344 inSubset NCIT_C177516 @default.
- NCIT_C126344 type Class @default.
- NCIT_C126344 isDefinedBy ncit.owl @default.
- NCIT_C126344 label "Lymphoproliferative Syndrome 1" @default.
- NCIT_C126344 subClassOf Bb0d6214d109f20c12c5a61097541a1e0 @default.
- NCIT_C126344 subClassOf Bbc6199fec342ff49eaf4a3a25f784678 @default.
- NCIT_C126344 subClassOf NCIT_C126344 @default.
- NCIT_C126344 subClassOf NCIT_C27351 @default.
- NCIT_C126344 subClassOf NCIT_C27551 @default.
- NCIT_C126344 subClassOf NCIT_C28193 @default.
- NCIT_C126344 subClassOf NCIT_C2991 @default.
- NCIT_C126344 subClassOf NCIT_C3131 @default.
- NCIT_C126344 subClassOf NCIT_C3507 @default.
- NCIT_C126344 subClassOf NCIT_C7057 @default.