OBO ID: DOID:0111457
Term Name: STING-associated vasculopathy with onset in infancy Search Ontology:
Synonyms:
  • 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. https://www.ncbi.nlm.nih.gov/pubmed/25029335
References:
Ontology: Human Disease   ( DOID:0111457 )
Relationships
is a type of:
OTHER STING-associated vasculopathy with onset in infancy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM173 STING-associated vasculopathy, infantile-onset 615934
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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