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arthrocutaneouveal granulomatosis (ACUG); granulomatous synovitis with uveitis & cranial neuropathies; familial juvenile systemic granulomatosis; Jabs syndrome; Blau syndrome; familial granulomatous inflammatory arthritis, dermatitis & uveitis
Epidemiology: rare
Genetics:
- autosomal dominant
- associated with defects in NOD2 are the cause of
Clinical manifestations:
- early-onset granulomatous arthritis, uveitis & skin rash
General
granulomatosis
syndrome
Database Correlations
OMIM 186580
References
OMIM :accession 186580