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Echinobase
Summary Literature (0)
DOID:0050678 - Blau syndrome


Disease Ontology Definition:An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes.

Synonyms: ARTHROCUTANEOUVEAL GRANULOMATOSIS, Jabs syndrome,

Echinobase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a)