ONTOLOGY REPORT - ANNOTATIONS


Term:STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
go back to main search page
Accession:DOID:9002101 term browser browse the term
Definition:An 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. Tissue biopsy and laboratory findings show a hyperinflammatory state, with evidence of increased beta-interferon. (OMIM)
Synonyms:exact_synonym: SAVI;   STING-associated vasculopathy with onset in infancy
 primary_id: OMIM:615934;   RDO:9001585
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem173 transmembrane protein 173 JBrowse link 18 28,529,537 28,535,828 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      cardiovascular system disease 4056
        vascular disease 3039
          STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Genetic Skin Diseases 580
              Hereditary Autoinflammatory Diseases 97
                STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.