GenTIGSA Gene Database on Rare Genetic Disorders
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Blau Syndrome  
Disease Aliases (23)

Acug

Arthrocutaneouveal granulomatosis

Arthrocutaneouveal granulamotosis

Blaus

Blau syndrome

Blau syndrome; blaus

Eos

Early onset sarcoidosis

Early onset sarcoidosis (former)

Early-onset sarcoidosis

Familial granulomatosis, blau type

Familial juvenile systemic granulomatosis

Familial granulomatous inflammatory arthritis, dermatitis and uveitis

Granulomatosis, familial juvenile systemic

Granulomatosis, familial, blau type

Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial

Granulomatous inflammatory arthritis, dermatitis and uveitis, familial

Jabs syndrome

Pediatric granulomatous arthritis

Sarcoidosis, early-onset

Sporadic blau syndrome

Synovitis granulomatous with uveitis and cranial neuropathies

Synovitis, granulomatous, with uveitis and cranial neuropathies

Associated Genes (1)
 

NCBI-RefSeq:  NOD2   (Nucleotide binding oligomerization domain containing 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Blau syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations