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C1 inhibitor deficiency

Disease Summary
Associated Targets (23)
Tbio

12

Tdark

6

Tchem

4

Tclin

1


Disease Ontology Description A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.
Mondo Term and Equivalent IDs
MONDO:0007361:  C1 inhibitor deficiency
Orphanet:459353: 
UMLS:C1852700: