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 ) |