C1 inhibitor deficiency

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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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

:

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007361 - C1 inhibitor deficiency

MONDO:0007361 - C1 inhibitor deficiency

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)