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- NCIT_C9469 IAO_0000115 "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections." @default.
- NCIT_C9469 NCIT_A13 NCIT_C21538 @default.
- NCIT_C9469 NCIT_NHC0 "C9469" @default.
- NCIT_C9469 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C9469 NCIT_P108 "C5 Deficiency" @default.
- NCIT_C9469 NCIT_P207 "C0343047" @default.
- NCIT_C9469 NCIT_P366 "C5_Deficiency" @default.
- NCIT_C9469 NCIT_R176 NCIT_C16612 @default.
- NCIT_C9469 NCIT_R176 NCIT_C21518 @default.
- NCIT_C9469 NCIT_R176 NCIT_C21538 @default.
- NCIT_C9469 normalizedInformationContent "90.826665450122817" @default.
- NCIT_C9469 referenceCount "4" @default.
- NCIT_C9469 hasExactSynonym "C5 Deficiency" @default.
- NCIT_C9469 type Class @default.
- NCIT_C9469 isDefinedBy ncit.owl @default.
- NCIT_C9469 label "C5 Deficiency" @default.
- NCIT_C9469 subClassOf Bd2bc58dcee54e8b1542e4b8fcbd71a2b @default.
- NCIT_C9469 subClassOf Bf2f0062e431a46a301d20270f857c793 @default.
- NCIT_C9469 subClassOf NCIT_C27351 @default.
- NCIT_C9469 subClassOf NCIT_C27551 @default.
- NCIT_C9469 subClassOf NCIT_C28193 @default.
- NCIT_C9469 subClassOf NCIT_C2991 @default.
- NCIT_C9469 subClassOf NCIT_C3131 @default.
- NCIT_C9469 subClassOf NCIT_C3507 @default.
- NCIT_C9469 subClassOf NCIT_C4691 @default.
- NCIT_C9469 subClassOf NCIT_C7057 @default.
- NCIT_C9469 subClassOf NCIT_C9469 @default.