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STING-associated vasculopathy with onset in infancy
Summary
- Synonym
-
- SAVI
- Definition
- An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31.
- Super Class
- autoimmune disease of cardiovascular system autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111457
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
