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Echinobase
Summary Literature (0)
DOID:0060002 - C1 inhibitor deficiency


Disease Ontology Definition: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.

Synonyms: Quincke edema

Echinobase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): complement deficiency (is_a)