ONTOLOGY REPORT - ANNOTATIONS


Term:Blau syndrome
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Accession:DOID:0050678 term browser browse the term
Definition:An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes. (DO)
Synonyms:exact_synonym: ACUG;   BLAUS;   Familial Granulomatosis, Blau Type;   Familial Juvenile Systemic Granulomatosis;   Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial;   Jabs syndrome;   Pediatric Granulomatous Arthritis;   arthrocutaneouveal granulomatosis;   synovitis granulomatous with uveitis and cranial neuropathies
 primary_id: MESH:C538157;   RDO:0004093
 alt_id: OMIM:186580
 xref: GARD:304
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Blau syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:7240710
RGD:8158040
RGD:8158051
RGD:8547515
RGD:8547518
RGD:8554872
RGD:11554173

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  disease 14875
    syndrome 4220
      Blau syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      Immune & Inflammatory Diseases 2988
        immune system disease 2414
          hypersensitivity reaction disease 1456
            hypersensitivity reaction type IV disease 74
              sarcoidosis 60
                Early-Onset Sarcoidosis 1
                  Blau syndrome 1
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