Term Name: Blau syndrome
Synonyms: ARTHROCUTANEOUVEAL GRANULOMATOSIS, BLAUS, Jabs syndrome
Definition: A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
Ontology: Human Disease [DOID:0050678]   ( DOID:0050678 )

Relationships
is a type of: autosomal dominant disease syndrome