complement component 6 deficiency
GPTKB entity
Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
immune system
|
| gptkbp:associatedWith |
increased susceptibility to Neisseria infections
|
| gptkbp:causedBy |
mutations in C6 gene
|
| gptkbp:characterizedBy |
deficiency of complement component 6 protein
|
| gptkbp:diagnosedBy |
complement activity assay
|
| https://www.w3.org/2000/01/rdf-schema#label |
complement component 6 deficiency
|
| gptkbp:inheritsFrom |
autosomal recessive
|
| gptkbp:OMIM |
612446
|
| gptkbp:symptom |
recurrent gonococcal infections
recurrent meningococcal infections |
| gptkbp:bfsParent |
gptkb:C6_gene
|
| gptkbp:bfsLayer |
7
|