hereditary angioedema type III

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Summary

Literature (0)

DOID:0080940 - hereditary angioedema type III

Disease Ontology Definition:A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35.

Synonyms:

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

: f12

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): hereditary angioedema (is_a)