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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:granulomatosis with polyangiitis
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Accession:DOID:12132 term browser browse the term
Definition:An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. (DO)
Synonyms:exact_synonym: WG;   Wegener granulomatosis;   Wegener granulomatosis, formerly;   Wegener's granulomatosis;   Wegener's syndrome;   granulomatosis with polyangiitides;   necrotizing respiratory granulomatosis
 primary_id: MESH:D014890
 alt_id: OMIM:608710
 xref: EFO:0005297;   GARD:7880;   ICD10CM:M31.3;   ICD9CM:446.4;   NCI:C3444
For additional species annotation, visit the Alliance of Genome Resources.


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granulomatosis with polyangiitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:nasal cavity epithelium
protein:increased expression:blood, T cell		 RGD PMID:11529927 PMID:12716450 RGD:4145634, RGD:6893409 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:12858455 RGD:4892114 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:21412229 RGD:6893495 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21411717 RGD:5490596 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) RGD PMID:12022356 RGD:7204724 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Fcar Fc alpha receptor ISO RGD PMID:22147912 RGD:7242064 NCBI chr 1:69,626,458...69,660,558 JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:nasal cavity mucosa, blood vessel: RGD PMID:2772560 RGD:8548880 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:11838849 RGD:1580480 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Prtn3 proteinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25288799 NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:20156770 RGD:5684985 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    sensory system disease 6435
      skin disease 3794
        granulomatosis with polyangiitis 11
          Midline Granulomatosis 0
          Wegener-Like Granulomatosis 0
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      Immune & Inflammatory Diseases 5206
        immune system disease 4508
          primary immunodeficiency disease 3848
            autoimmune disease 2297
              Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis 31
                granulomatosis with polyangiitis 11
                  Midline Granulomatosis 0
                  Wegener-Like Granulomatosis 0
paths to the root