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STING-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory vasculopathy associated with the stimulator of interferon genes (STING) protein and characterised by severe skin lesions and interstitial lung disease.

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dbo:abstract
  • الأسباب: الطفرات الجينية في جين رقم TMEM173 . (ar)
  • STING-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory vasculopathy associated with the stimulator of interferon genes (STING) protein and characterised by severe skin lesions and interstitial lung disease. (en)
dbo:icd10
  • M35.8
dbo:omim
  • 615934 (xsd:integer)
dbo:orpha
  • ORPHA:425120
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  • 60038512 (xsd:integer)
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  • 10209 (xsd:nonNegativeInteger)
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  • 1111025697 (xsd:integer)
dbo:wikiPageWikiLink
dbp:caption
  • Autosomal dominant pattern is the inheritance manner of this condition (en)
dbp:causes
  • Mutations in the TMEM173 gene (en)
dbp:field
dbp:icd
  • M35.8 (en)
dbp:name
  • STING-associated vasculopathy with onset in infancy (en)
dbp:omim
  • 615934 (xsd:integer)
dbp:orphanet
  • ORPHA:425120 (en)
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rdf:type
rdfs:comment
  • الأسباب: الطفرات الجينية في جين رقم TMEM173 . (ar)
  • STING-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory vasculopathy associated with the stimulator of interferon genes (STING) protein and characterised by severe skin lesions and interstitial lung disease. (en)
rdfs:label
  • محفز جينات الأنترفيرون المرتبط باعتلال الاوعية الدموية وحدوثها عند الأطفال (ar)
  • STING-associated vasculopathy with onset in infancy (en)
owl:sameAs
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foaf:depiction
foaf:isPrimaryTopicOf
foaf:name
  • STING-associated vasculopathy with onset in infancy (en)
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