"OMIM:615934"^^ . "ORDO:425120"^^ . "DOID:0111457"^^ . _:vb50944847 . "GARD:12357"^^ . "SAVI"@en . _:vb50944847 . _:vb50944848 . "disease_ontology"^^ . _:vb50944847 . _:vb50944848 . _:vb50944847 . . . "STING-associated vasculopathy with onset in infancy"^^ . "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 TMEM173 on chromosome 5q31."^^ . _:vb50944848 . _:vb50944848 . _:vb50944847 . . . _:vb50944848 .