FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term STING-associated vasculopathy with onset in infancy ID (Ontology) DOID:0111457 (Human Disease)
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.
Also Known As "SAVI"
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 Genes
 STING-associated vasculopathy with onset in infancy       1
 for disease ribbon | STING-associated vasculopathy with onset in infancy       1
 model of | STING-associated vasculopathy with onset in infancy       1
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autosomal genetic disease
 |__autosomal dominant disease___________________
cardiovascular system disease                    |
 |__autoimmune disease of cardiovascular system__|
autoimmune disease                               |
 |__autoimmune disease of cardiovascular system__|
                                                 STING-associated vasculopathy with onset in infancy  1 rec.
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Is a autosomal dominant disease
autoimmune disease of cardiovascular system
Part of
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Synonyms
  • "SAVI" EXACT OMO:0003012
Secondary IDs
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GARD:12357
MIM:615934
ORDO:425120