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- NCIT_C162694 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the DCLRE1C gene, encoding protein artemis. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell negative, NK-cell positive. Sensitivity to ionizing radiation and a high incidence of occurrence amongst the Athabascan Indians are also characteristic of this disease." @default.
- NCIT_C162694 NCIT_A13 NCIT_C90040 @default.
- NCIT_C162694 NCIT_NHC0 "C162694" @default.
- NCIT_C162694 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C162694 NCIT_P108 "Severe Combined Immunodeficiency, Athabascan Type" @default.
- NCIT_C162694 NCIT_P207 "C1865371" @default.
- NCIT_C162694 NCIT_P322 "Cellosaurus" @default.
- NCIT_C162694 NCIT_R116 NCIT_C150672 @default.
- NCIT_C162694 NCIT_R116 NCIT_C150673 @default.
- NCIT_C162694 NCIT_R116 NCIT_C26323 @default.
- NCIT_C162694 NCIT_R116 NCIT_C27351 @default.
- NCIT_C162694 NCIT_R116 NCIT_C27551 @default.
- NCIT_C162694 NCIT_R116 NCIT_C2991 @default.
- NCIT_C162694 NCIT_R116 NCIT_C35686 @default.
- NCIT_C162694 NCIT_R116 NCIT_C35814 @default.
- NCIT_C162694 NCIT_R116 NCIT_C7057 @default.
- NCIT_C162694 NCIT_R116 NCIT_C9308 @default.
- NCIT_C162694 NCIT_R176 NCIT_C16612 @default.
- NCIT_C162694 NCIT_R176 NCIT_C21281 @default.
- NCIT_C162694 NCIT_R176 NCIT_C25804 @default.
- NCIT_C162694 NCIT_R176 NCIT_C25952 @default.
- NCIT_C162694 NCIT_R176 NCIT_C90040 @default.
- NCIT_C162694 normalizedInformationContent "100" @default.
- NCIT_C162694 referenceCount "1" @default.
- NCIT_C162694 hasExactSynonym "ART-SCID" @default.
- NCIT_C162694 hasExactSynonym "Artemis-Deficient SCID" @default.
- NCIT_C162694 hasExactSynonym "Artemis-Deficient Severe Combined Immunodeficiency" @default.
- NCIT_C162694 hasExactSynonym "RS-SCID" @default.
- NCIT_C162694 hasExactSynonym "Severe Combined Immunodeficiency, Athabascan Type" @default.
- NCIT_C162694 hasExactSynonym "Severe Combined Immunodeficiency, Athabaskan Type" @default.
- NCIT_C162694 inSubset NCIT_C165258 @default.
- NCIT_C162694 inSubset NCIT_C192842 @default.
- NCIT_C162694 type Class @default.
- NCIT_C162694 isDefinedBy ncit.owl @default.
- NCIT_C162694 label "Severe Combined Immunodeficiency, Athabascan Type" @default.
- NCIT_C162694 subClassOf B6b56268b28fa6e62462540106c11f059 @default.
- NCIT_C162694 subClassOf Baac0caef34b41da0c6be12a0a103d3e1 @default.
- NCIT_C162694 subClassOf NCIT_C162694 @default.
- NCIT_C162694 subClassOf NCIT_C27351 @default.
- NCIT_C162694 subClassOf NCIT_C27551 @default.
- NCIT_C162694 subClassOf NCIT_C27871 @default.
- NCIT_C162694 subClassOf NCIT_C28193 @default.
- NCIT_C162694 subClassOf NCIT_C2991 @default.
- NCIT_C162694 subClassOf NCIT_C3101 @default.
- NCIT_C162694 subClassOf NCIT_C3131 @default.
- NCIT_C162694 subClassOf NCIT_C3472 @default.
- NCIT_C162694 subClassOf NCIT_C3507 @default.
- NCIT_C162694 subClassOf NCIT_C7057 @default.