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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:STING-associated vasculopathy with onset in infancy
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Accession:DOID:0111457 term browser browse the term
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 TMEM173 on chromosome 5q31. (DO)
Synonyms:exact_synonym: SAVI;   STING-associated vasculopathy, infantile-onset
 primary_id: OMIM:615934
 xref: GARD:12357;   NCI:C177547;   ORDO:425120
For additional species annotation, visit the Alliance of Genome Resources.



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STING-associated vasculopathy with onset in infancy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Sting-associated vasculopathy, infantile-onset OMIM
ClinVar
PMID:24033266 PMID:25029335 PMID:25401470 PMID:25741868 PMID:26235147 More... NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        autoimmune disease of cardiovascular system 108
          STING-associated vasculopathy with onset in infancy 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Immune & Inflammatory Diseases 4036
        immune system disease 3398
          primary immunodeficiency disease 2723
            autoimmune disease 1851
              autoimmune disease of cardiovascular system 108
                STING-associated vasculopathy with onset in infancy 1
paths to the root