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complement component 6 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 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.
Mondo Term and Equivalent IDs
MONDO:0012908:  complement component 6 deficiency
UMLS:C2676232: