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- NCIT_C119993 IAO_0000115 "Lack of production of functional C4 protein, due to a genetic defect requiring homozygous loss of both the C4A and C4B genetic paralogs. Approximately 75% of patients with a C4 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_C119993 NCIT_NHC0 "C119993" @default.
- NCIT_C119993 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C119993 NCIT_P108 "C4 Deficiency" @default.
- NCIT_C119993 NCIT_P207 "C3899844" @default.
- NCIT_C119993 NCIT_P322 "NICHD" @default.
- NCIT_C119993 NCIT_P325 "Lack of production of functional C4 protein, due to a genetic defect requiring homozygous loss of both the C4A and C4B genetic paralogs. Approximately 75% of patients with a C4 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_C119993 NCIT_R176 NCIT_C128857 @default.
- NCIT_C119993 NCIT_R176 NCIT_C16612 @default.
- NCIT_C119993 NCIT_R176 NCIT_C21518 @default.
- NCIT_C119993 normalizedInformationContent "100" @default.
- NCIT_C119993 referenceCount "1" @default.
- NCIT_C119993 hasExactSynonym "C4 Deficiency" @default.
- NCIT_C119993 inSubset NCIT_C118468 @default.
- NCIT_C119993 inSubset NCIT_C90259 @default.
- NCIT_C119993 type Class @default.
- NCIT_C119993 isDefinedBy ncit.owl @default.
- NCIT_C119993 label "C4 Deficiency" @default.
- NCIT_C119993 subClassOf B91d7d5bfc9ff5fc6bc498aae5e7453d7 @default.
- NCIT_C119993 subClassOf Bd76dff55a93d7722c3e235b5d87342c8 @default.
- NCIT_C119993 subClassOf NCIT_C119993 @default.
- NCIT_C119993 subClassOf NCIT_C27351 @default.
- NCIT_C119993 subClassOf NCIT_C27551 @default.
- NCIT_C119993 subClassOf NCIT_C28193 @default.
- NCIT_C119993 subClassOf NCIT_C2991 @default.
- NCIT_C119993 subClassOf NCIT_C3131 @default.
- NCIT_C119993 subClassOf NCIT_C3507 @default.
- NCIT_C119993 subClassOf NCIT_C4691 @default.
- NCIT_C119993 subClassOf NCIT_C7057 @default.