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Standards Ontologies Notations
hereditary angioedema type I

Summary
Definition
A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q.
Super Class
autosomal recessive disease hereditary angioedema
Disease Ontology
DOID:0080939
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
710 SERPING1 serpin family G member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
12258 Serping1 serine (or cysteine) peptidase inhibitor, clade G, member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
295703 Serping1 serpin family G member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
34091 Spn28Dc Serpin 28Dc
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024