Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:STING-associated vasculopathy with onset in infancy
go back to main search page
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;   ORDO:425120
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
STING-associated vasculopathy with onset in infancy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sting1 stimulator of interferon response cGAMP interactor 1 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 15553
    disease of anatomical entity 14837
      cardiovascular system disease 4218
        autoimmune disease of cardiovascular system 1
          STING-associated vasculopathy with onset in infancy 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                STING-associated vasculopathy with onset in infancy 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.