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- NCIT_C9468 IAO_0000115 "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." @default.
- NCIT_C9468 NCIT_A13 NCIT_C21521 @default.
- NCIT_C9468 NCIT_NHC0 "C9468" @default.
- NCIT_C9468 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C9468 NCIT_P108 "C3 Deficiency" @default.
- NCIT_C9468 NCIT_P207 "C1332655" @default.
- NCIT_C9468 NCIT_P322 "NICHD" @default.
- NCIT_C9468 NCIT_P325 "Lack of production of functional C3 protein, due to a genetic defect. Patients present at an early age with overwhelming infections with encapsulated bacteria. Patients may also present with systemic lupus erythematosus, autoimmune glomerulonephritis, or juvenile idiopathic arthritis-like syndromes." @default.
- NCIT_C9468 NCIT_P366 "C3_Deficiency" @default.
- NCIT_C9468 NCIT_R176 NCIT_C16612 @default.
- NCIT_C9468 NCIT_R176 NCIT_C21518 @default.
- NCIT_C9468 NCIT_R176 NCIT_C21521 @default.
- NCIT_C9468 normalizedInformationContent "90.826665450122817" @default.
- NCIT_C9468 referenceCount "4" @default.
- NCIT_C9468 hasExactSynonym "C3 Deficiency" @default.
- NCIT_C9468 inSubset NCIT_C118468 @default.
- NCIT_C9468 inSubset NCIT_C90259 @default.
- NCIT_C9468 type Class @default.
- NCIT_C9468 isDefinedBy ncit.owl @default.
- NCIT_C9468 label "C3 Deficiency" @default.
- NCIT_C9468 subClassOf B5f05e05f000145ae3cd94d47ff941140 @default.
- NCIT_C9468 subClassOf Bb6b94002588a709266b17fc4a2ea1a34 @default.
- NCIT_C9468 subClassOf NCIT_C27351 @default.
- NCIT_C9468 subClassOf NCIT_C27551 @default.
- NCIT_C9468 subClassOf NCIT_C28193 @default.
- NCIT_C9468 subClassOf NCIT_C2991 @default.
- NCIT_C9468 subClassOf NCIT_C3131 @default.
- NCIT_C9468 subClassOf NCIT_C3507 @default.
- NCIT_C9468 subClassOf NCIT_C4691 @default.
- NCIT_C9468 subClassOf NCIT_C7057 @default.
- NCIT_C9468 subClassOf NCIT_C9468 @default.