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- NCIT_C176807 IAO_0000115 "An autosomal recessive severe combined immunodeficiency caused by mutation(s) in the JAK3 gene, encoding tyrosine-protein kinase JAK3. It is characterized by decreased concentrations of T-cells and NK-cells and normal concentrations of B-cells." @default.
- NCIT_C176807 NCIT_NHC0 "C176807" @default.
- NCIT_C176807 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C176807 NCIT_P108 "Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Positive, NK-Cell Negative" @default.
- NCIT_C176807 NCIT_P208 "CL1642745" @default.
- NCIT_C176807 NCIT_R116 NCIT_C150672 @default.
- NCIT_C176807 NCIT_R116 NCIT_C150673 @default.
- NCIT_C176807 NCIT_R116 NCIT_C26323 @default.
- NCIT_C176807 NCIT_R116 NCIT_C27351 @default.
- NCIT_C176807 NCIT_R116 NCIT_C27551 @default.
- NCIT_C176807 NCIT_R116 NCIT_C2991 @default.
- NCIT_C176807 NCIT_R116 NCIT_C35686 @default.
- NCIT_C176807 NCIT_R116 NCIT_C35814 @default.
- NCIT_C176807 NCIT_R116 NCIT_C7057 @default.
- NCIT_C176807 NCIT_R116 NCIT_C9308 @default.
- NCIT_C176807 NCIT_R176 NCIT_C16612 @default.
- NCIT_C176807 NCIT_R176 NCIT_C21281 @default.
- NCIT_C176807 NCIT_R176 NCIT_C24530 @default.
- NCIT_C176807 NCIT_R176 NCIT_C25870 @default.
- NCIT_C176807 NCIT_R176 NCIT_C25871 @default.
- NCIT_C176807 NCIT_R176 NCIT_C25872 @default.
- NCIT_C176807 NCIT_R176 NCIT_C25971 @default.
- NCIT_C176807 normalizedInformationContent "100" @default.
- NCIT_C176807 referenceCount "1" @default.
- NCIT_C176807 hasExactSynonym "JAK3 Deficiency" @default.
- NCIT_C176807 hasExactSynonym "JAK3 deficiency" @default.
- NCIT_C176807 hasExactSynonym "Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Positive, NK-Cell Negative" @default.
- NCIT_C176807 type Class @default.
- NCIT_C176807 isDefinedBy ncit.owl @default.
- NCIT_C176807 label "Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Positive, NK-Cell Negative" @default.
- NCIT_C176807 subClassOf Bbde36d0e30a30b01fcf9c1c6f70719e7 @default.
- NCIT_C176807 subClassOf Bed02437a138e4b70f090e3776a476c81 @default.
- NCIT_C176807 subClassOf NCIT_C176807 @default.
- NCIT_C176807 subClassOf NCIT_C27351 @default.
- NCIT_C176807 subClassOf NCIT_C27551 @default.
- NCIT_C176807 subClassOf NCIT_C27871 @default.
- NCIT_C176807 subClassOf NCIT_C28193 @default.
- NCIT_C176807 subClassOf NCIT_C2991 @default.
- NCIT_C176807 subClassOf NCIT_C3101 @default.
- NCIT_C176807 subClassOf NCIT_C3131 @default.
- NCIT_C176807 subClassOf NCIT_C3472 @default.
- NCIT_C176807 subClassOf NCIT_C3507 @default.
- NCIT_C176807 subClassOf NCIT_C7057 @default.