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- NCIT_C176806 IAO_0000115 "A genetic condition caused by mutation(s) in the IFNGR1 gene, encoding interferon gamma receptor 1, resulting in impairment of interferon-gamma mediated immunity. Clinically, it is characterized by predisposition to illness caused by moderately virulent mycobacterial species." @default.
- NCIT_C176806 NCIT_NHC0 "C176806" @default.
- NCIT_C176806 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C176806 NCIT_P108 "Immunodeficiency 27A" @default.
- NCIT_C176806 NCIT_P207 "C2930924" @default.
- NCIT_C176806 NCIT_P322 "Cellosaurus" @default.
- NCIT_C176806 NCIT_R176 NCIT_C16612 @default.
- NCIT_C176806 NCIT_R176 NCIT_C20103 @default.
- NCIT_C176806 NCIT_R176 NCIT_C20912 @default.
- NCIT_C176806 NCIT_R176 NCIT_C21295 @default.
- NCIT_C176806 NCIT_R176 NCIT_C37280 @default.
- NCIT_C176806 normalizedInformationContent "100" @default.
- NCIT_C176806 referenceCount "1" @default.
- NCIT_C176806 hasExactSynonym "Autosomal Recessive IFNGR1 Deficiency" @default.
- NCIT_C176806 hasExactSynonym "Autosomal Recessive Interferon Gamma Receptor 1 Deficiency" @default.
- NCIT_C176806 hasExactSynonym "IFNGR 1 Deficiency" @default.
- NCIT_C176806 hasExactSynonym "IFNGR1 Deficiency" @default.
- NCIT_C176806 hasExactSynonym "IMD27A" @default.
- NCIT_C176806 hasExactSynonym "Immunodeficiency 27A" @default.
- NCIT_C176806 hasExactSynonym "Interferon Gamma Receptor 1 Deficiency" @default.
- NCIT_C176806 hasExactSynonym "MSMD due to Complete IFNGR1 Deficiency" @default.
- NCIT_C176806 hasExactSynonym "MSMD due to Complete IFNgammaR1 Deficiency" @default.
- NCIT_C176806 hasExactSynonym "Mendelian Susceptibility to Mycobacterial Diseases due to Complete IFNgammaR1 Deficiency" @default.
- NCIT_C176806 inSubset NCIT_C165258 @default.
- NCIT_C176806 inSubset NCIT_C192842 @default.
- NCIT_C176806 type Class @default.
- NCIT_C176806 isDefinedBy ncit.owl @default.
- NCIT_C176806 label "Immunodeficiency 27A" @default.
- NCIT_C176806 subClassOf NCIT_C126337 @default.
- NCIT_C176806 subClassOf NCIT_C176806 @default.
- NCIT_C176806 subClassOf NCIT_C27351 @default.
- NCIT_C176806 subClassOf NCIT_C27551 @default.
- NCIT_C176806 subClassOf NCIT_C28193 @default.
- NCIT_C176806 subClassOf NCIT_C2991 @default.
- NCIT_C176806 subClassOf NCIT_C3131 @default.
- NCIT_C176806 subClassOf NCIT_C3507 @default.
- NCIT_C176806 subClassOf NCIT_C7057 @default.