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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:Blau syndrome
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Accession:DOID:0050678 term browser browse the term
Definition:A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. (DO)
Synonyms:exact_synonym: ACUG;   BLAUS;   Familial Juvenile Systemic Granulomatosis;   Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial;   Jabs syndrome;   arthrocutaneouveal granulomatosis;   familial granulomatosis, Blau type;   pediatric granulomatous arthritis;   synovitis granulomatous with uveitis and cranial neuropathies
 primary_id: MESH:C538157
 alt_id: OMIM:186580
 xref: GARD:304;   NCI:C116794


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Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383G (human)
DNA:snp:cds:p.E383K (human)
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040, RGD:8158051, RGD:8547515, RGD:8547518 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      musculoskeletal system disease 8306
        connective tissue disease 5786
          synovitis 6
            Blau syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      Immune & Inflammatory Diseases 5574
        immune system disease 4782
          hypersensitivity reaction disease 157
            hypersensitivity reaction type IV disease 134
              sarcoidosis 63
                Early-Onset Sarcoidosis 1
                  Blau syndrome 1
paths to the root