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- NCIT_C162695 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the NHEJ1 gene, encoding non-homologous end-joining factor 1. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell negative, NK-cell positive. Microcephaly, growth retardation, and sensitivity to ionizing radiation are also characteristic of this disease." @default.
- NCIT_C162695 NCIT_A13 NCIT_C88513 @default.
- NCIT_C162695 NCIT_NHC0 "C162695" @default.
- NCIT_C162695 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C162695 NCIT_P108 "Severe Combined Immunodeficiency due to NHEJ1 Deficiency" @default.
- NCIT_C162695 NCIT_P208 "CL973088" @default.
- NCIT_C162695 NCIT_P322 "Cellosaurus" @default.
- NCIT_C162695 NCIT_R116 NCIT_C150672 @default.
- NCIT_C162695 NCIT_R116 NCIT_C150673 @default.
- NCIT_C162695 NCIT_R116 NCIT_C26323 @default.
- NCIT_C162695 NCIT_R116 NCIT_C27351 @default.
- NCIT_C162695 NCIT_R116 NCIT_C27551 @default.
- NCIT_C162695 NCIT_R116 NCIT_C2991 @default.
- NCIT_C162695 NCIT_R116 NCIT_C35686 @default.
- NCIT_C162695 NCIT_R116 NCIT_C35814 @default.
- NCIT_C162695 NCIT_R116 NCIT_C7057 @default.
- NCIT_C162695 NCIT_R116 NCIT_C9308 @default.
- NCIT_C162695 NCIT_R176 NCIT_C16612 @default.
- NCIT_C162695 NCIT_R176 NCIT_C19676 @default.
- NCIT_C162695 NCIT_R176 NCIT_C88513 @default.
- NCIT_C162695 normalizedInformationContent "100" @default.
- NCIT_C162695 referenceCount "1" @default.
- NCIT_C162695 hasExactSynonym "Cernunnos / XLF deficiency" @default.
- NCIT_C162695 hasExactSynonym "NHEJ1-SCID" @default.
- NCIT_C162695 hasExactSynonym "Severe Combined Immunodeficiency due to NHEJ1 Deficiency" @default.
- NCIT_C162695 inSubset NCIT_C165258 @default.
- NCIT_C162695 inSubset NCIT_C192842 @default.
- NCIT_C162695 type Class @default.
- NCIT_C162695 isDefinedBy ncit.owl @default.
- NCIT_C162695 label "Severe Combined Immunodeficiency due to NHEJ1 Deficiency" @default.
- NCIT_C162695 subClassOf Bbbdcedb94be4a098308b17df366c0311 @default.
- NCIT_C162695 subClassOf Bcdc4b6882a9c9ee045543b83e382b940 @default.
- NCIT_C162695 subClassOf NCIT_C162695 @default.
- NCIT_C162695 subClassOf NCIT_C27351 @default.
- NCIT_C162695 subClassOf NCIT_C27551 @default.
- NCIT_C162695 subClassOf NCIT_C27871 @default.
- NCIT_C162695 subClassOf NCIT_C28193 @default.
- NCIT_C162695 subClassOf NCIT_C2991 @default.
- NCIT_C162695 subClassOf NCIT_C3101 @default.
- NCIT_C162695 subClassOf NCIT_C3131 @default.
- NCIT_C162695 subClassOf NCIT_C3472 @default.
- NCIT_C162695 subClassOf NCIT_C3507 @default.
- NCIT_C162695 subClassOf NCIT_C7057 @default.