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DOID:0050678 - Blau syndrome
Disease Ontology Definition:A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.
Synonyms: ARTHROCUTANEOUVEAL GRANULOMATOSIS, Jabs syndrome, BLAUS
Echinobase Genes
:
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)