hereditary angioedema 1

Term ID

DOID:0080939

Synonyms

• HAE1
• HAE2
• hereditary angioedema type I
• hereditary angioedema type II

Definition

A hereditrary angioedema characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts and that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q.12.1. https://pubmed.ncbi.nlm.nih.gov/11161971/

References

• MIM:106100

Ontology

Human Disease   ( DOID:0080939 )