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Metadata
ID	DOID:0111457
Name	STING-associated vasculopathy with onset in infancy
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. https://www.ncbi.nlm.nih.gov/pubmed/25029335
Xrefs	GARD:12357 OMIM:615934 ORDO:425120
Subsets	DO_rare_slim
Synonyms	SAVI [EXACT]
Parent Relationships	is_a autoimmune disease of cardiovascular system is_a autosomal dominant disease