hereditary angioedema type I

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Summary

Literature (0)

DOID:0080939 - hereditary angioedema type I

Disease Ontology Definition:A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q.

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

MIM:

MIM:106100 - ANGIOEDEMA, HEREDITARY, 1; HAE1

MIM:106100 - ANGIOEDEMA, HEREDITARY, 1; HAE1

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

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

Parent(s): autosomal recessive disease (is_a), hereditary angioedema (is_a)