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- NCIT_C119991 IAO_0000115 "Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae." @default.
- NCIT_C119991 NCIT_NHC0 "C119991" @default.
- NCIT_C119991 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C119991 NCIT_P108 "C1r/C1s Deficiency" @default.
- NCIT_C119991 NCIT_P207 "C3150274" @default.
- NCIT_C119991 NCIT_P322 "NICHD" @default.
- NCIT_C119991 NCIT_P325 "Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae." @default.
- NCIT_C119991 normalizedInformationContent "100" @default.
- NCIT_C119991 referenceCount "1" @default.
- NCIT_C119991 hasExactSynonym "C1r/C1s Deficiency" @default.
- NCIT_C119991 inSubset NCIT_C118468 @default.
- NCIT_C119991 inSubset NCIT_C90259 @default.
- NCIT_C119991 type Class @default.
- NCIT_C119991 isDefinedBy ncit.owl @default.
- NCIT_C119991 label "C1r/C1s Deficiency" @default.
- NCIT_C119991 subClassOf B437ae139d05bc81668a06d109ec2c480 @default.
- NCIT_C119991 subClassOf B9390c9889e00d4b51ee6719abd578740 @default.
- NCIT_C119991 subClassOf NCIT_C119991 @default.
- NCIT_C119991 subClassOf NCIT_C27351 @default.
- NCIT_C119991 subClassOf NCIT_C27551 @default.
- NCIT_C119991 subClassOf NCIT_C28193 @default.
- NCIT_C119991 subClassOf NCIT_C2991 @default.
- NCIT_C119991 subClassOf NCIT_C3131 @default.
- NCIT_C119991 subClassOf NCIT_C3507 @default.
- NCIT_C119991 subClassOf NCIT_C4691 @default.
- NCIT_C119991 subClassOf NCIT_C7057 @default.