About: STING-associated vasculopathy with onset in infancy

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About: STING-associated vasculopathy with onset in infancy Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease autoimmune disease of cardiovascular system nodeID://b50944847 nodeID://b50944848
label	STING-associated vasculopathy with onset in infancy
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111457
database_cross_reference	GARD:12357 OMIM:615934 ORDO:425120
has_exact_synonym	SAVI (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944849

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