hereditary angioedema type III

Term ID

DOID:0080940

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/16638441/

References

• MESH:D056828
• OMIM:610618

Ontology

Human Disease   ( DOID:0080940 )