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complement component 4a 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 C4A gene.
Uniprot Description A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis.
Mondo Term and Equivalent IDs
MONDO:0013721:  complement component 4a deficiency
MESH:C565167: 
UMLS:C3280642: