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complement component 9 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.
Uniprot Description A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis.
Mondo Term and Equivalent IDs
MONDO:0013445:  complement component 9 deficiency
MESH:C565165: 
UMLS:C3151189: