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- NCIT_C126338 IAO_0000115 "A condition of decreased or absent presence or activity of V(D)J recombination-activating protein 1. Deficiency of this protein is associated with Omenn syndrome, severe combined immunodeficiency, b cell-negative, combined cellular and humoral immune defects with granulomas, and alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity." @default.
- NCIT_C126338 NCIT_A13 NCIT_C80068 @default.
- NCIT_C126338 NCIT_NHC0 "C126338" @default.
- NCIT_C126338 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C126338 NCIT_P108 "Hypomorphic RAG1 Deficiency" @default.
- NCIT_C126338 NCIT_P208 "CL504904" @default.
- NCIT_C126338 NCIT_R176 NCIT_C133710 @default.
- NCIT_C126338 NCIT_R176 NCIT_C16612 @default.
- NCIT_C126338 NCIT_R176 NCIT_C21281 @default.
- NCIT_C126338 NCIT_R176 NCIT_C25790 @default.
- NCIT_C126338 NCIT_R176 NCIT_C25804 @default.
- NCIT_C126338 NCIT_R176 NCIT_C25870 @default.
- NCIT_C126338 NCIT_R176 NCIT_C25952 @default.
- NCIT_C126338 NCIT_R176 NCIT_C80068 @default.
- NCIT_C126338 normalizedInformationContent "100" @default.
- NCIT_C126338 referenceCount "1" @default.
- NCIT_C126338 hasExactSynonym "Hypomorphic RAG1 Deficiency" @default.
- NCIT_C126338 hasExactSynonym "Hypomorphic Rag1 deficiency" @default.
- NCIT_C126338 type Class @default.
- NCIT_C126338 isDefinedBy ncit.owl @default.
- NCIT_C126338 label "Hypomorphic RAG1 Deficiency" @default.
- NCIT_C126338 subClassOf B4320e07087008f10028291112879b1c0 @default.
- NCIT_C126338 subClassOf B5e74c4ded6402979a00275ec8ea890d3 @default.
- NCIT_C126338 subClassOf NCIT_C126338 @default.
- NCIT_C126338 subClassOf NCIT_C27351 @default.
- NCIT_C126338 subClassOf NCIT_C27551 @default.
- NCIT_C126338 subClassOf NCIT_C28193 @default.
- NCIT_C126338 subClassOf NCIT_C2991 @default.
- NCIT_C126338 subClassOf NCIT_C3131 @default.
- NCIT_C126338 subClassOf NCIT_C3507 @default.
- NCIT_C126338 subClassOf NCIT_C7057 @default.